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Ratko TA, Marbella A, Godfrey S, et al. Enzyme-Replacement Therapies for Lysosomal Storage Diseases [Internet]. Rockville (MD): Agency for Healthcare Research and Quality (US); 2013 Jan. (Technical Briefs, No. 12.)

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Enzyme-Replacement Therapies for Lysosomal Storage Diseases [Internet].

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Appendix EResource Bibliography

Fabry Disease

1.
Agalsidase beta (Fabrazyme) for Fabry disease. Med Lett Drugs Ther. 2003 Sep 15;45(1165):74–5. [PubMed: 12968124]
2.
Agalsidase evaluation: A case in point. Prescrire International. 2003;12(67):162.
3.
Agalsidase beta slows the progression of advanced Fabry’s disease. Nature Clinical Practice Nephrology. 2007;3(4):181.
4.
Aaron JA, Ansani NT. Agalsidase beta: Enzyme replacement therapy for fabry disease. P and T. 2005;30(4):222–4.
5.
Abaterusso C, De Biase V, Salviati A, et al. Unusual renal presentation of Fabry disease in a female patient. Nat Rev Nephrol. 2009 Jun;5(6):349–54. [PubMed: 19399018]
6.
Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007 Jan 16;146(2):77–86. [PubMed: 17179052]
7.
Banikazemi M, Desnick RJ. Does enzyme replacement therapy improve symptoms of Fabry disease in patients undergoing dialysis? Nat Clin Pract Nephrol. 2006 Feb;2(2):72–3. [PubMed: 16932395]
8.
Banikazemi M, Ullman T, Desnick RJ. Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Mol Genet Metab. 2005 Aug;85(4):255–9. [PubMed: 15939645]
9.
Barbey F, Hayoz D, Widmer U, et al. Efficacy of enzyme replacement therapy in Fabry disease. Curr Med Chem Cardiovasc Hematol Agents. 2004 Oct;2(4):277–86. [PubMed: 15320778]
10.
Barbey F, Lidove O, Schwarting A. Fabry nephropathy: 5 years of enzyme replacement therapy - A short review. NDT Plus. 2008;1(1):11–9.
11.
Barngrover D. Fabrazyme–recombinant protein treatment for Fabry’s disease. J Biotechnol. 2002 May 23;95(3):280–2. [PubMed: 12080957]
12.
Beer M, Weidemann F, Breunig F, et al. Impact of Enzyme Replacement Therapy on Cardiac Morphology and Function and Late Enhancement in Fabry’s Cardiomyopathy. American Journal of Cardiology. 2006;97(10):1515–8. [PubMed: 16679096]
13.
Bengtsson BA, Johansson JO, Hollak C, et al. Enzyme replacement in Anderson-Fabry disease. Lancet. 2003 Jan 25;361(9354):352. [PubMed: 12559898]
14.
Bouwman MG, Hollak CE, van den Bergh Weerman MA, et al. Analysis of placental tissue in Fabry disease with and without enzyme replacement therapy. Placenta. 2010 Apr;31(4):344–6. [PubMed: 20189642]
15.
Breunig F, Wanner C. Enzyme replacement therapy for Fabry disease: Proving the clinical benefit. Nephrology Dialysis Transplantation. 2003;18(1):7–9. [PubMed: 12480950]
16.
Breunig F, Wanner C. Update on Fabry disease: Kidney involvement, renal progression and enzyme replacement therapy. Journal of Nephrology. 2008;21(1):32–7. [PubMed: 18264934]
17.
Caballero L, Climent V, Hernandez-Romero D, et al. Enzyme replacement therapy in Fabry disease: influence on cardiac manifestations. Curr Med Chem. 2010;17(16):1679–89. [PubMed: 20345350]
18.
Cho ME, Kopp JB. Fabry disease in the era of enzyme replacement therapy: A renal perspective. Pediatric Nephrology. 2004;19(6):583–93. [PubMed: 15064943]
19.
Choi JH, Cho YM, Suh KS, et al. Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease. J Korean Med Sci. 2008 Apr;23(2):243–50. [PMC free article: PMC2526436] [PubMed: 18437007]
20.
Clarke JT, Iwanochko RM. Enzyme replacement therapy of Fabry disease. Mol Neurobiol. 2005 Aug;32(1):43–50. [PubMed: 16077182]
21.
Collin C, Briet M, Tran TC, et al. Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry disease. Eur J Cardiovasc Prev Rehabil. 2011 Mar 4 [PubMed: 21450622]
22.
Collin C, Briet M, Tran TC, et al. Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry disease. Eur J Prev Cardiolog. 2012 Feb;19(1):43–54. [PubMed: 21450622]
23.
Connock M, Juarez-Garcia A, Frew E, et al. A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry’s disease and mucopolysaccharidosis type 1. Health Technol Assess. 2006 Jun;10(20):iii–iv. ix–113. [PubMed: 16729919]
24.
De Schoenmakere G, Chauveau D, Grunfeld JP. Enzyme replacement therapy in Anderson-Fabry’s disease: beneficial clinical effect on vital organ function. Nephrol Dial Transplant. 2003 Jan;18(1):33–5. [PubMed: 12480957]
25.
Deegan PB. Fabry disease, enzyme replacement therapy and the significance of antibody responses. J Inherit Metab Dis. 2012 Mar;35(2):227–43. [PubMed: 22037707]
26.
del Toro N, Milan JA, Palma A. Enzyme replacement in the treatment of Fabry’s disease. Is there a point-of-no-return? Nephrol Dial Transplant. 2004 Apr;19(4):1018. [PubMed: 15031378]
27.
Desnick RJ. Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval. Expert Opin Biol Ther. 2004 Jul;4(7):1167–76. [PubMed: 15268683]
28.
Desnick RJ, Banikazemi M. Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy. Nephrol Ther. 2006 Jan;2(Suppl 2):S172–85. [PubMed: 17373219]
29.
Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003 Feb 18;138(4):338–46. [PubMed: 12585833]
30.
El Dib RP, Pastores GM. Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev. 2010;5:CD006663. [PubMed: 20464743]
31.
Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006 Sep;8(9):539–48. [PubMed: 16980809]
32.
Eto Y, Ohashi T, Utsunomiya Y, et al. Enzyme replacement therapy in Japanese Fabry disease patients: the results of a phase 2 bridging study. J Inherit Metab Dis. 2005;28(4):575–83. [PubMed: 15902561]
33.
Faggiano A, Severino R, Ramundo V, et al. Thyroid function in Fabry disease before and after enzyme replacement therapy. Minerva Endocrinologica. 2011;36(1):1–5. [PubMed: 21460782]
34.
Feldt-Rasmussen U. Fabry disease and early stroke. Stroke Research and Treatment. 2011 [PMC free article: PMC3138050] [PubMed: 21776363]
35.
Fervenza FC, Torra R, Warnock DG. Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease. Biologics. 2008 Dec;2(4):823–43. [PMC free article: PMC2727881] [PubMed: 19707461]
36.
Germain DP, Bruneval P, Tran TC, et al. Uneventful pregnancy outcome after enzyme replacement therapy with agalsidase beta in a heterozygous female with Fabry disease: A case report. Eur J Med Genet. 2010 Mar–Apr;53(2):111–2. [PubMed: 20045092]
37.
Germain DP, Waldek S, Banikazemi M, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol. 2007 May;18(5):1547–57. [PubMed: 17409312]
38.
Guffon N, Fouilhoux A. Clinical benefit in Fabry patients given enzyme replacement therapy–a case series. J Inherit Metab Dis. 2004;27(2):221–7. [PubMed: 15159653]
39.
Hesselgrave B. Diagnostic challenges and new therapies for rare lysosomal storage diseases. Case Manager. 2003 Nov–Dec;14(6):48–52. [PubMed: 14618149]
40.
Hilz MJ, Brys M, Marthol H, et al. Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. Neurology. 2004 Apr 13;62(7):1066–72. [PubMed: 15079003]
41.
Hilz MJ, Koehn J, Kolodny EH, et al. Metronomic breathing shows altered parasympathetic baroreflex function in untreated Fabry patients and baroreflex improvement after enzyme replacement therapy. J Hypertens. 2011 Dec;29(12):2387–94. [PubMed: 21970939]
42.
Hilz MJ, Marthol H, Schwab S, et al. Enzyme replacement therapy improves cardiovascular responses to orthostatic challenge in Fabry patients. J Hypertens. 2010 Jul;28(7):1438–48. [PubMed: 20125036]
43.
Hirashio S, Taguchi T, Naito T, et al. Renal histology before and after effective enzyme replacement therapy in a patient with classical Fabry’s disease. Clin Nephrol. 2009 May;71(5):550–6. [PubMed: 19473616]
44.
Hollak CE, Linthorst GE. Immune response to enzyme replacement therapy in Fabry disease: impact on clinical outcome? Mol Genet Metab. 2009 Jan;96(1):1–3. [PubMed: 19062323]
45.
Hollak CEM, Aerts JMFG, Ayme S, et al. Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders. Orphanet Journal of Rare Diseases. 2011;6(1) [PMC free article: PMC3102605] [PubMed: 21496291]
46.
Hopkin RJ, Bissler J, Grabowski GA. Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease. Genet Med. 2003 May–Jun;5(3):144–53. [PubMed: 12792421]
47.
Imbriaco M, Pisani A, Spinelli L, et al. Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study. Heart. 2009 Jul;95(13):1103–7. [PubMed: 19372091]
48.
Kalliokoski RJ, Kantola I, Kalliokoski KK, et al. The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease. J Inherit Metab Dis. 2006 Feb;29(1):112–8. [PubMed: 16601877]
49.
Kampmann C, Wiethoff CM, Perrot A, et al. The heart in Anderson Fabry disease. Z Kardiol. 2002 Oct;91(10):786–95. [PubMed: 12395219]
50.
Kato T, Nishimura K, Ichikawa Y. Deceased renal transplantation in patient with Fabry’s disease maintained by enzyme replacement therapy. Int J Urol. 2009 Jul;16(7):650. [PubMed: 19659805]
51.
Keating GM, Simpson D. Spotlight on agalsidase beta in Fabry disease. BioDrugs. 2007;21(4):269–71. [PubMed: 17628124]
52.
Keating GM, Simpson D. Agalsidase Beta: a review of its use in the management of Fabry disease. Drugs. 2007;67(3):435–55. [PubMed: 17335299]
53.
Kim W, Pyeritz RE, Bernhardt BA, et al. Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy. Am J Med Genet A. 2007 Feb 15;143(4):377–81. [PubMed: 17256799]
54.
Kovacevic-Preradovic T, Zuber M, Attenhofer Jost CH, et al. Anderson-Fabry disease: long-term echocardiographic follow-up under enzyme replacement therapy. Eur J Echocardiogr. 2008 Nov;9(6):729–35. [PubMed: 18490303]
55.
Lidove O, Joly D, Barbey F, et al. Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature. Int J Clin Pract. 2007 Feb;61(2):293–302. [PubMed: 17263716]
56.
Lidove O, West ML, Pintos-Morell G, et al. Effects of enzyme replacement therapy in Fabry disease–a comprehensive review of the medical literature. Genet Med. 2010 Nov;12(11):668–79. [PubMed: 20962662]
57.
Lim-Melia ER, Kronn DF. Current enzyme replacement therapy for the treatment of lysosomal storage diseases. Pediatr Ann. 2009 Aug;38(8):448–55. [PubMed: 19725195]
58.
Linthorst GE, Aerts JM. Letter concerning “Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha”, by Tanaka et al. J Inherit Metab Dis. 2011 Feb;34(1):237–8. [PMC free article: PMC3026712] [PubMed: 20938807]
59.
Linthorst GE, Vedder AC, Ormel EE, et al. Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands. Nephrol Dial Transplant. 2006 Feb;21(2):355–60. [PubMed: 16249196]
60.
Lubanda JC, Anijalg E, Bzduch V, et al. Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease. Genet Med. 2009 Apr;11(4):256–64. [PubMed: 19265719]
61.
Mehta A. Fabry disease–whom to treat and when. Clin Ther. 2008;30(Suppl B):S43–4. [PubMed: 18395136]
62.
Mehta A, Beck M, Kampmann C, et al. Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta. Mol Genet Metab. 2008 Sep–Oct;95(1–2):114–5. [PubMed: 18701330]
63.
Messalli G, Imbriaco M, Avitabile G, et al. Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: assessing cardiac effects of long-term enzyme replacement therapy. Radiol Med. 2011 Jul 9 [PubMed: 21744250]
64.
Messalli G, Imbriaco M, Avitabile G, et al. Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: assessing cardiac effects of long-term enzyme replacement therapy. Radiol Med. 2012 Feb;117(1):19–28. [PubMed: 21744250]
65.
Mignani R, Cagnoli L. Enzyme replacement therapy in Fabry’s disease: recent advances and clinical applications. J Nephrol. 2004 May–Jun;17(3):354–63. [PubMed: 15365954]
66.
Mignani R, Feriozzi S, Pisani A, et al. Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy. Nephrol Dial Transplant. 2008 May;23(5):1628–35. [PubMed: 18057066]
67.
Mignani R, Panichi V, Giudicissi A, et al. Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study. Kidney Int. 2004 Apr;65(4):1381–5. [PubMed: 15086478]
68.
Mills K, Vellodi A, Morris P, et al. Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease. Eur J Pediatr. 2004 Oct;163(10):595–603. [PubMed: 15243806]
69.
Motabar O, Sidransky E, Goldin E, et al. Fabry disease - current treatment and new drug development. Current Chemical Genomics. 2010;4(1):50–6. [PMC free article: PMC2995157] [PubMed: 21127742]
70.
Ortiz A, Oliveira JP, Wanner C, et al. Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults. Nature Clinical Practice Nephrology. 2008;4(6):327–36. [PubMed: 18431378]
71.
Phadke SR, Mandal K, Girisha KM. Fabry disease: a treatable lysosomal storage disorder. Natl Med J India. 2009 Jan–Feb;22(1):20–2. [PubMed: 19761154]
72.
Pintos-Morell G, Beck M. Fabry disease in children and the effects of enzyme replacement treatment. Eur J Pediatr. 2009 Nov;168(11):1355–63. [PMC free article: PMC2745529] [PubMed: 19242721]
73.
Politei JM. Treatment with agalsidase beta during pregnancy in Fabry disease. J Obstet Gynaecol Res. 2010 Apr;36(2):428–9. [PubMed: 20492401]
74.
Prinz C, Farr M, Hering D, et al. Reduction in ECG abnormalities and improvement of regional left ventricular function in a patient with Fabry’s disease during enzyme-replacement therapy. Clin Res Cardiol. 2010 Jan;99(1):53–5. [PubMed: 19774328]
75.
Rozenfeld P, Neumann PM. Treatment of fabry disease: Current and emerging strategies. Current Pharmaceutical Biotechnology. 2011;12(6):916–22. [PubMed: 21235448]
76.
Schaefer RM, Tylki-Szymanska A, Hilz MJ. Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Drugs. 2009 Nov 12;69(16):2179–205. [PubMed: 19852524]
77.
Schiffmann R. Enzyme replacement in Fabry disease: the essence is in the kidney. Ann Intern Med. 2007 Jan 16;146(2):142–4. [PubMed: 17179053]
78.
Schiffmann R. Agalsidase treatment for Fabry disease: uses and rivalries. Genet Med. 2010 Nov;12(11):684–5. [PubMed: 20975568]
79.
Sheppard MN, Cane P, Florio R, et al. A detailed pathologic examination of heart tissue from three older patients with Anderson-Fabry disease on enzyme replacement therapy. Cardiovasc Pathol. 2010 Sep–Oct;19(5):293–301. [PubMed: 19631563]
80.
Siamopoulos KC. Fabry disease: kidney involvement and enzyme replacement therapy. Kidney Int. 2004 Feb;65(2):744–53. [PubMed: 14717955]
81.
Sirrs S, Clarke JT, Bichet DG, et al. Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative. Mol Genet Metab. 2010 Apr;99(4):367–73. [PubMed: 20022777]
82.
Spinelli L, Pisani A, Sabbatini M, et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry’s disease. Clin Genet. 2004 Aug;66(2):158–65. [PubMed: 15253767]
83.
Suzuki K, Miura N, Kitagawa W, et al. Progressive renal failure despite long-term biweekly enzyme replacement therapy in a patient with Fabry disease secondary to a new alpha-galactosidase mutation of Leu311Arg (L311R) Clin Exp Nephrol. 2011 Jul 15 [PubMed: 21755431]
84.
Tahir H, Jackson LL, Warnock DG. Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol. 2007 Sep;18(9):2609–17. [PubMed: 17656478]
85.
Tanaka A, Takeda T, Hoshina T, et al. Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha. J Inherit Metab Dis. 2010 Jun 22 [PubMed: 20567910]
86.
Tesmoingt C, Lidove O, Reberga A, et al. Enzyme therapy in Fabry disease: severe adverse events associated with anti-agalsidase cross-reactive IgG antibodies. Br J Clin Pharmacol. 2009 Nov;68(5):765–9. [PMC free article: PMC2791983] [PubMed: 19917001]
87.
Thurberg BL, Phelps R, Granter S, et al. Fabrazyme clears globotriaosylceramide from the skin of fabry patients abstract. 2003. http://www​.mrw.interscience​.wiley.com/cochrane​/clcentral/articles​/044/CN-00593044/frame.html.
88.
Uceyler N, He L, Schonfeld D, et al. Small fibers in Fabry disease: Baseline and follow-up data under enzyme replacement therapy. Journal of the Peripheral Nervous System. 2011;16(4):304–14. [PubMed: 22176145]
89.
van Breemen MJ, Rombach SM, Dekker N, et al. Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochim Biophys Acta. 2011 Jan;1812(1):70–6. [PubMed: 20851180]
90.
Vedder AC, Breunig F, Donker-Koopman WE, et al. Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol Genet Metab. 2008 Jul;94(3):319–25. [PubMed: 18424138]
91.
Vedder AC, Linthorst GE, Houge G, et al. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS One. 2007;2(7):e598. [PMC free article: PMC1913555] [PubMed: 17622343]
92.
Wang RY, Abe JT, Cohen AH, et al. Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage. J Inherit Metab Dis. 2008 Dec;31(Suppl 2):369–74. [PubMed: 18937048]
93.
Warnock DG, Daina E, Remuzzi G, et al. Enzyme replacement therapy and fabry nephropathy. Clinical Journal of the American Society of Nephrology. 2010;5(2):371–8. [PubMed: 20007680]
94.
Warnock DG, Ortiz A, Mauer M, et al. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant. 2011 Jul 29 [PMC free article: PMC3289896] [PubMed: 21804088]
95.
Warnock DG, Ortiz A, Mauer M, et al. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant. 2012 Mar;27(3):1042–9. [PMC free article: PMC3289896] [PubMed: 21804088]
96.
Watt T, Burlina AP, Cazzorla C, et al. Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry. Genet Med. 2010 Nov;12(11):703–12. [PubMed: 20885332]
97.
Weidemann F, Breunig F, Beer M, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation. 2003 Sep 16;108(11):1299–301. [PubMed: 12952834]
98.
Wilcox WR, Banikazemi M, Guffon N, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet. 2004 Jul;75(1):65–74. [PMC free article: PMC1182009] [PubMed: 15154115]
99.
Wilcox WR, Linthorst GE, Germain DP, et al. Anti-alpha-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry. Mol Genet Metab. 2012 Mar;105(3):443–9. [PubMed: 22227322]
100.
Wraith JE, Tylki-Szymanska A, Guffon N, et al. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr. 2008 Apr;152(4):563–70. 70 e1. [PubMed: 18346516]
101.
Wuest W, Machann W, Breunig F, et al. Right ventricular involvement in patients with Fabry’s disease and the effect of enzyme replacement therapy. Rofo. 2011 Nov;183(11):1037–42. [PubMed: 21959886]

Type I Gaucher Disease

1.
Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. JAMA. 1996 Feb 21;275(7):548–53. [PubMed: 8606477]
2.
Aerts JM, Yasothan U, Kirkpatrick P. Velaglucerase alfa. Nat Rev Drug Discov. 2010 Nov;9(11):837–8. [PubMed: 21030995]
3.
Andersson H, Kaplan P, Kacena K, et al. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics. 2008 Dec;122(6):1182–90. [PubMed: 19047232]
4.
Andersson HC, Charrow J, Kaplan P, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med. 2005 Feb;7(2):105–10. [PubMed: 15714077]
5.
Arikan-Ayyildiz Z, Yuce A, Emre S, et al. Outcome of enzyme replacement therapy in Turkish patients with Gaucher disease: does late intervention affect the response? Turk J Pediatr. 2011 Sep–Oct;53(5):499–507. [PubMed: 22272449]
6.
Arikan-Ayyildiz Z, Yuce A, Uslu-Kizilkan N, et al. Immunoglobulin abnormalities and effects of enzyme replacement therapy in children with Gaucher disease. Pediatr Blood Cancer. 2011 Apr;56(4):664–6. [PubMed: 21298757]
7.
Barranger JA. Risks of Gaucher’s treatment. Lancet. 2000 Oct 14;356(9238):1353–4. [PubMed: 11073045]
8.
Barton NW, Brady RO, Dambrosia JM, et al. Replacement therapy for inherited enzyme deficiency–macrophage-targeted glucocerebrosidase for Gaucher’s disease. N Engl J Med. 1991 May 23;324(21):1464–70. [PubMed: 2023606]
9.
Barton NW, Furbish FS, Murray GJ, et al. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci U S A. 1990 Mar;87(5):1913–6. [PMC free article: PMC53594] [PubMed: 2308952]
10.
Beck M. New therapeutic options for lysosomal storage disorders: Enzyme replacement, small molecules and gene therapy. Human Genetics. 2007;121(1):1–22. [PubMed: 17089160]
11.
Belmatoug N, De Villemeur TB. Skeletal response to enzyme replacement therapy for type 1 Gaucher disease: A preliminary report of the French experience. Seminars in Hematology. 1995;323(SUPPL 1):33–8.
12.
Bembi B, Ciana G, Mengel E, et al. Bone complications in children with Gaucher disease. Br J Radiol. 2002;75(Suppl 1):A37–44. [PubMed: 12036831]
13.
Bembi B, Deegan P. Gaucher disease: improving management. Acta Paediatr Suppl. 2008 Apr;97(457):81–2. [PubMed: 18339194]
14.
Bembi B, Zanatta M, Carrozzi M, et al. Enzyme replacement treatment in type 1 and type 3 Gaucher’s disease. Lancet. 1994 Dec 17;344(8938):1679–82. [PubMed: 7996964]
15.
Benedik-Dolnicar M, Kitanovski L. Individualized long-term enzyme therapy for Gaucher disease type 1 in Slovenia. Pediatrics International. 2011;53(6):1018–22. [PubMed: 21883686]
16.
Beutler E. Enzyme replacement therapy for Gaucher’s disease. Baillieres Clin Haematol. 1997 Dec;10(4):751–63. [PubMed: 9497862]
17.
Beutler E, Kay A, Saven A, et al. Enzyme replacement therapy for Gaucher disease. Blood. 1991 Sep 1;78(5):1183–9. [PubMed: 1878585]
18.
Boiret-Dupre N, Descamps S, Coudore MA, et al. Effects of imiglucerase treatment on traumatic fracture and bone and blood abnormalities in a patient with previously untreated type 1 gaucher disease. Clin Ther. 2009 Dec;31(12):2900–4. [PubMed: 20110029]
19.
Brady RO. Emerging strategies for the treatment of hereditary metabolic storage disorders. Rejuvenation Res. 2006 Summer;9(2):237–44. [PubMed: 16706651]
20.
Burrow TA, Grabowski GA. Velaglucerase alfa in the treatment of Gaucher disease type 1. Clin Investig (Lond) 2011 Feb;1(2):285–93. [PMC free article: PMC3172711] [PubMed: 21927713]
21.
Charrow J. Enzyme replacement therapy for Gaucher disease. Expert Opinion on Biological Therapy. 2009;9(1):121–31. [PubMed: 19063698]
22.
Charrow J, Andersson HC, Kaplan P, et al. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr. 2004 Jan;144(1):112–20. [PubMed: 14722528]
23.
Chippington S, McHugh K, Vellodi A. Splenic nodules in paediatric Gaucher disease treated by enzyme replacement therapy. Pediatr Radiol. 2008 Jun;38(6):657–60. [PubMed: 18379770]
24.
Cleary JE, Burke WM, Baxi LV. Pregnancy after avascular necrosis of the femur complicating Gaucher’s disease. Am J Obstet Gynecol. 2001 Jan;184(2):233–4. [PubMed: 11174510]
25.
Cohen IJ, Katz K, Kornreich L, et al. Low-dose high-frequency enzyme replacement therapy prevents fractures without complete suppression of painful bone crises in patients with severe juvenile onset type I Gaucher disease. Blood Cells Mol Dis. 1998 Sep;24(3):296–302. [PubMed: 10087987]
26.
Connock M, Burls A, Frew E, et al. The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher’s disease: a systematic review. Health Technol Assess. 2006 Jul;10(24):iii–iv. ix–136. [PubMed: 16796930]
27.
de Fost M, Aerts JM, Groener JE, et al. Low frequency maintenance therapy with imiglucerase in adult type I Gaucher disease: a prospective randomized controlled trial. Haematologica. 2007 Feb;92(2):215–21. [PubMed: 17296571]
28.
Decaux O, Ruelland A, Grosbois B. Effect of treatment on biclonal gammopathy associated with Gaucher disease. J Inherit Metab Dis. 2007 Oct;30(5):824. [PubMed: 17879146]
29.
Doneda D, Lopes AL, Oliveira AR, et al. Gaucher disease type I: assessment of basal metabolic rate in patients from southern Brazil. Blood Cells Mol Dis. 2011 Jan 15;46(1):42–6. [PubMed: 21075022]
30.
Dweck A, Abrahamov A, Hadas-Halpern I, et al. Type I Gaucher disease in children with and without enzyme therapy. Pediatr Hematol Oncol. 2002 Sep;19(6):389–97. [PubMed: 12186361]
31.
Elstein D. Recent advances in treatment approaches to Gaucher disease. Curr Pharm Biotechnol. 2011 Jun;12(6):854–60. [PubMed: 21235447]
32.
Elstein D, Abrahamov A, Hadas-Halpern I, et al. Low-dose low-frequency imiglucerase as a starting regimen of enzyme replacement therapy for patients with type I Gaucher disease. QJM. 1998 Jul;91(7):483–8. [PubMed: 9797931]
33.
Elstein D, Abrahamov A, Itzchaki M, et al. Commentary: low-dose high-frequency enzyme replacement therapy prevents fractures without complete suppression of painful bone crises in patients with severe juvenile onset type I Gaucher disease. Blood Cells Mol Dis. 1998 Sep;24(3):303–5. discussion 6–8. [PubMed: 10087988]
34.
Elstein D, Cohn GM, Wang N, et al. Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease. Blood Cells Mol Dis. 2011 Jan 15;46(1):119–23. [PubMed: 20727796]
35.
Elstein D, Foldes AJ, Zahrieh D, et al. Significant and continuous improvement in bone mineral density among type 1 Gaucher disease patients treated with velaglucerase alfa: 69-month experience, including dose reduction. Blood Cells Mol Dis. 2011 Jun 15;47(1):56–61. [PubMed: 21536468]
36.
Elstein D, Granovsky-Grisaru S, Rabinowitz R, et al. Use of enzyme replacement therapy for Gaucher disease during pregnancy. Am J Obstet Gynecol. 1997 Dec;177(6):1509–12. [PubMed: 9423759]
37.
Elstein D, Hadas-Halpern I, Itzchaki M, et al. Effect of low-dose enzyme replacement therapy on bones in Gaucher disease patients with severe skeletal involvement. Blood Cells Mol Dis. 1996;22(2):104–11. discussion 12–4. [PubMed: 8931951]
38.
Elstein D, Zimran A. Review of the safety and efficacy of imiglucerase treatment of Gaucher disease. Biologics. 2009;3:407–17. [PMC free article: PMC2747339] [PubMed: 19774208]
39.
Erdemir G, Ozkan T, Ozgur T, et al. Pediatric gaucher experience in South Marmara region of Turkey. Turkish Journal of Gastroenterology. 2011;22(5):500–4. [PubMed: 22234757]
40.
Fallet S, Grace ME, Sibille A, et al. Enzyme augmentation in moderate to life-threatening Gaucher disease. Pediatr Res. 1992 May;31(5):496–502. [PubMed: 1603627]
41.
George MD, Pearse MF. Cemented revision total hip arthroplasty with impaction bone grafting in Gaucher’s disease. J Arthroplasty. 2002 Aug;17(5):667–9. [PubMed: 12168187]
42.
Germain DP. Gaucher’s disease: a paradigm for interventional genetics. Clin Genet. 2004 Feb;65(2):77–86. [PubMed: 14984463]
43.
Giraldo P, Irun P, Alfonso P, et al. Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage. Blood Cells Mol Dis. 2011 Jan 15;46(1):115–8. [PubMed: 20934891]
44.
Goker-Alpan O. Optimal therapy in Gaucher disease. Ther Clin Risk Manag. 2010;6:315–23. [PMC free article: PMC2909498] [PubMed: 20668714]
45.
Goldblatt J, Fletcher JM, McGill J, et al. Enzyme replacement therapy "drug holiday": results from an unexpected shortage of an orphan drug supply in Australia. Blood Cells Mol Dis. 2011 Jan 15;46(1):107–10. [PubMed: 20684886]
46.
Goldblatt J, Szer J, Fletcher JM, et al. Enzyme replacement therapy for Gaucher disease in Australia. Intern Med J. 2005 Mar;35(3):156–61. [PubMed: 15737135]
47.
Grabowski GA, Barton NW, Pastores G, et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med. 1995 Jan 1;122(1):33–9. [PubMed: 7985893]
48.
Grabowski GA, Kacena K, Cole JA, et al. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med. 2009 Feb;11(2):92–100. [PMC free article: PMC3793250] [PubMed: 19265748]
49.
Grigorescu Sido P, Drugan C, Cret V, et al. Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience. J Inherit Metab Dis. 2007 Oct;30(5):783–9. [PubMed: 17703370]
50.
Grigorescu-Sido P, Drugan C, Alkhzouz C, et al. Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1. Eur J Intern Med. 2010 Apr;21(2):104–13. [PubMed: 20206881]
51.
Grinzaid KA, Geller E, Hanna SL, et al. Cessation of enzyme replacement therapy in Gaucher disease. Genet Med. 2002 Nov–Dec;4(6):427–33. [PubMed: 12509713]
52.
Hayes RP, Grinzaid KA, Duffey EB, et al. The impact of Gaucher disease and its treatment on quality of life. Qual Life Res. 1998 Aug;7(6):521–34. [PubMed: 9737142]
53.
Heitner R, Arndt S, Levin JB. Imiglucerase low-dose therapy for paediatric Gaucher disease–a long-term cohort study. S Afr Med J. 2004 Aug;94(8):647–51. [PubMed: 15352589]
54.
Hill SC, Parker CC, Brady RO, et al. MRI of multiple platyspondyly in Gaucher disease: response to enzyme replacement therapy. J Comput Assist Tomogr. 1993 Sep–Oct;17(5):806–9. [PubMed: 8370839]
55.
Hollak CE, Aerts JM, van Oers MH. Alglucerase: practical guidance on appropriate dosage and administration in patients with Gaucher disease. BioDrugs. 1998 Jan;9(1):11–23. [PubMed: 18020553]
56.
Hollak CE, Corssmit EP, Aerts JM, et al. Differential effects of enzyme supplementation therapy on manifestations of type 1 Gaucher disease. Am J Med. 1997 Sep;103(3):185–91. [PubMed: 9316550]
57.
Hollak CE, de Fost M, van Dussen L, et al. Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose - response relationships. Expert Opin Pharmacother. 2009 Nov;10(16):2641–52. [PubMed: 19743939]
58.
Hollak CE, Goudsmit R, van Oers MH. Low-dose versus high-frequency regimens in Gaucher’s disease. Lancet. 1996 Feb 10;347(8998):406–7. [PubMed: 8598739]
59.
Hollak CE, vom Dahl S, Aerts JM, et al. Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis. 2010 Jan 15;44(1):41–7. [PubMed: 19804996]
60.
Hsu CC, Chien YH, Lai MY, et al. Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease. J Formos Med Assoc. 2002 Sep;101(9):627–31. [PubMed: 12645190]
61.
Ida H, Rennert OM, Kobayashi M, et al. Effects of enzyme replacement therapy in thirteen Japanese paediatric patients with Gaucher disease. Eur J Pediatr. 2001 Jan;160(1):21–5. [PubMed: 11195013]
62.
Kishnani PS, DiRocco M, Kaplan P, et al. A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1. Mol Genet Metab. 2009 Apr;96(4):164–70. [PubMed: 19195916]
63.
Lachmann RH. Enzyme replacement therapy for lysosomal storage diseases. Current Opinion in Pediatrics. 2011;23(6):588–93. [PubMed: 21946346]
64.
Lin HY, Lin SP, Chuang CK, et al. Enzyme replacement therapy with imiglucerase in a Taiwanese child with type 1 Gaucher disease. J Chin Med Assoc. 2006 May;69(5):228–32. [PubMed: 16835986]
65.
Lo SM, Liu J, Chen F, et al. Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy. J Inherit Metab Dis. 2011 Jun;34(3):643–50. [PMC free article: PMC3782382] [PubMed: 21445609]
66.
Mikosch P, Reed M, Baker R, et al. Changes of bone metabolism in seven patients with Gaucher disease treated consecutively with imiglucerase and miglustat. Calcif Tissue Int. 2008 Jul;83(1):43–54. [PubMed: 18553043]
67.
Mistry P, Germain DP. Therapeutic goals in Gaucher disease. Rev Med Interne. 2006 Mar;27(Suppl 1):S30–8. [PubMed: 16644400]
68.
Mistry PK, Deegan P, Vellodi A, et al. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. Br J Haematol. 2009 Nov;147(4):561–70. [PMC free article: PMC2774157] [PubMed: 19732054]
69.
Mistry PK, Sirrs S, Chan A, et al. Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol Genet Metab. 2002 Sep–Oct;77(1–2):91–8. [PubMed: 12359135]
70.
Mistry PK, Weinreb NJ, Kaplan P, et al. Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol Dis. 2011 Jan 15;46(1):66–72. [PMC free article: PMC3019260] [PubMed: 21112800]
71.
Mitrovic M, Antic D, Elezovic I, et al. Haemostatic abnormalities in treatment-naive patients with Type 1 Gaucher’s disease. Platelets. 2012;23(2):143–9. [PubMed: 21767238]
72.
Morales LE. Gaucher’s disease: a review. Ann Pharmacother. 1996 Apr;30(4):381–8. [PubMed: 8729893]
73.
Morris JL. Velaglucerase alfa for the management of type 1 Gaucher disease. Clin Ther. 2012 Feb;34(2):259–71. [PubMed: 22264444]
74.
Mota RM, Mankin H. Use of plain radiography to optimize skeletal outcomes in children with type 1 Gaucher disease in Brazil. J Pediatr Orthop. 2007 Apr–May;27(3):347–50. [PubMed: 17414023]
75.
Nagral A, Mewawalla P, Jagadeesh S, et al. Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India. Indian Pediatrics. 2011;48(10):779–84. [PubMed: 22080680]
76.
Niederau C, Holderer A, Heintges T, et al. Glucocerebrosidase for treatment of Gaucher’s disease: first German long-term results. J Hepatol. 1994 Oct;21(4):610–7. [PubMed: 7814809]
77.
Niederau C, vom Dahl S, Haussinger D. First long-term results of imiglucerase therapy of type 1 Gaucher disease. Eur J Med Res. 1998 Feb 21;3(1–2):25–30. [PubMed: 9512964]
78.
Parisi MS, Mastaglia SR, Bagur A, et al. Body composition and bone metabolism in young Gaucher disease type I patients treated with imiglucerase. Eur J Med Res. 2008 Jan 23;13(1):31–8. [PubMed: 18226995]
79.
Pastores GM. Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease. Curr Opin Investig Drugs. 2010 Apr;11(4):472–8. [PubMed: 20336596]
80.
Pastores GM. Recombinant glucocerebrosidase (imiglucerase) as a therapy for Gaucher disease. BioDrugs. 2010 Feb 1;24(1):41–7. [PubMed: 20055531]
81.
Pastores GM, Barnett NL. Current and emerging therapies for the lysosomal storage disorders. Expert Opinion on Emerging Drugs. 2005;10(4):891–902. [PubMed: 16262569]
82.
Pastores GM, Hermann G, Norton K, et al. Resolution of a proximal humeral defect in type-1 Gaucher disease by enzyme replacement therapy. Pediatr Radiol. 1995;25(6):486–7. [PubMed: 7491212]
83.
Pastores GM, Hermann G, Norton KI, et al. Regression of skeletal changes in type 1 Gaucher disease with enzyme replacement therapy. Skeletal Radiol. 1996 Jul;25(5):485–8. [PubMed: 8837283]
84.
Pastores GM, Hughes DA. Gaucher Disease. 1993. [PubMed: 20301446]
85.
Perel Y, Bioulac-Sage P, Chateil JF, et al. Gaucher’s disease and fatal hepatic fibrosis despite prolonged enzyme replacement therapy. Pediatrics. 2002 Jun;109(6):1170–3. [PubMed: 12042560]
86.
Perez-Calvo J, Giraldo P, Pastores GM, et al. Extended interval between enzyme therapy infusions for adult patients with Gaucher’s disease type 1. J Postgrad Med. 2003 Apr–Jun;49(2):127–31. [PubMed: 12867687]
87.
Piran S, Amato D. Gaucher disease: a systematic review and meta-analysis of bone complications and their response to treatment. J Inherit Metab Dis. 2010 Jun;33(3):271–9. [PubMed: 20336376]
88.
Poll LW, Koch JA, vom Dahl S, et al. Magnetic resonance imaging of bone marrow changes in Gaucher disease during enzyme replacement therapy: first German long-term results. Skeletal Radiol. 2001 Sep;30(9):496–503. [PubMed: 11587517]
89.
Rudzki Z, Okon K, Machaczka M, et al. Enzyme replacement therapy reduces Gaucher cell burden but may accelerate osteopenia in patients with type I disease - a histological study. Eur J Haematol. 2003 May;70(5):273–81. [PubMed: 12694162]
90.
Schiffmann R, Mankin H, Dambrosia JM, et al. Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy. Blood Cells Mol Dis. 2002 Mar–Apr;28(2):288–96. [PubMed: 12064924]
91.
Sekijima Y, Ohashi T, Ohira S, et al. Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk. Clin Ther. 2010 Nov;32(12):2048–52. [PubMed: 21118740]
92.
Shah U, Nadeem N, Husen Y, et al. Imiglucerase treatment in Gaucher’s disease. J Ayub Med Coll Abbottabad. 2007 Apr–Jun;19(2):56–9. [PubMed: 18183722]
93.
Sims KB, Pastores GM, Weinreb NJ, et al. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet. 2008 May;73(5):430–40. [PMC free article: PMC2440418] [PubMed: 18312448]
94.
Starzyk K, Richards S, Yee J, et al. The long-term international safety experience of imiglucerase therapy for Gaucher disease. Mol Genet Metab. 2007 Feb;90(2):157–63. [PubMed: 17079176]
95.
Stirnemann J, Boutten A, Vincent C, et al. Impact of imiglucerase on the serum glycosylated-ferritin level in Gaucher disease. Blood Cells Mol Dis. 2011 Jan 15;46(1):34–8. [PubMed: 21084203]
96.
Toth J, Erdos M, Marodi L. Rebound hepatosplenomegaly in type 1 Gaucher disease. Eur J Haematol. 2003 Feb;70(2):125–8. [PubMed: 12581195]
97.
Weinreb N, Barranger J, Packman S, et al. Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet. 2007 Jun;71(6):576–88. [PubMed: 17539908]
98.
Weinreb N, Taylor J, Cox T, et al. A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase. Am J Hematol. 2008 Dec;83(12):890–5. [PubMed: 18819093]
99.
Weinreb NJ. Imiglucerase and its use for the treatment of Gaucher’s disease. Expert Opin Pharmacother. 2008 Aug;9(11):1987–2000. [PubMed: 18627336]
100.
Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002 Aug 1;113(2):112–9. [PubMed: 12133749]
101.
Wenstrup RJ, Kacena KA, Kaplan P, et al. Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res. 2007 Jan;22(1):119–26. [PubMed: 17032149]
102.
Wilson C, Spearing R, Teague L, et al. The outcome of clinical parameters in adults with severe Type I Gaucher disease using very low dose enzyme replacement therapy. Mol Genet Metab. 2007 Sep–Oct;92(1–2):131–6. [PubMed: 17604204]
103.
Wine E, Yaniv I, Cohen IJ. Hyperimmunoglobulinemia in pediatric-onset type 1 Gaucher disease and effects of enzyme replacement therapy. J Pediatr Hematol Oncol. 2007 Jul;29(7):451–7. [PubMed: 17609622]
104.
Wraith JE. Limitations of enzyme replacement therapy: Current and future. Journal of Inherited Metabolic Disease. 2006;29(2–3):442–7. [PubMed: 16763916]
105.
Yalcin K, Ucmak F, Bestas R, et al. Gaucher’s disease presenting with massive hepatic fibrosis and skeletal abnormalities: A case report with review of the literature. Turkiye Klinikleri Journal of Medical Sciences. 2011;31(3):752–8.
106.
Zhao H, Bailey LA, Grabowski GA. Enzyme therapy of gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies. Blood Cells Mol Dis. 2003 Jan–Feb;30(1):90–6. [PubMed: 12667990]
107.
Zimran A. Velaglucerase alfa: a new option for Gaucher disease treatment. Drugs Today (Barc) 2011 Jul;47(7):515–29. [PubMed: 22013559]
108.
Zimran A, Altarescu G, Philips M, et al. Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood. 2010 Jun 10;115(23):4651–6. [PubMed: 20299511]
109.
Zimran A, Elstein D, Abrahamov A. Enzyme replacement therapy in type 1 and type 3 Gaucher’s disease. Lancet. 1995 Feb 18;345(8947):451–2. [PubMed: 7853968]
110.
Zimran A, Elstein D, Levy-Lahad E, et al. Replacement therapy with imiglucerase for type 1 Gaucher’s disease. Lancet. 1995 Jun 10;345(8963):1479–80. [PubMed: 7769903]
111.
Zimran A, Hollak CE, Abrahamov A, et al. Home treatment with intravenous enzyme replacement therapy for Gaucher disease: an international collaborative study of 33 patients. Blood. 1993 Aug 15;82(4):1107–9. [PubMed: 8353277]
112.
Zimran A, Morris E, Mengel E, et al. The female Gaucher patient: the impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause) Blood Cells Mol Dis. 2009 Nov–Dec;43(3):264–88. [PubMed: 19502088]

MPS I

1.
Laronidase. BioDrugs. 2002;16(4):316–8. [PubMed: 12196045]
2.
Laronidase. Prescrire International. 2004;13(74):217.
3.
Anbu AT, Mercer J, Wraith JE. Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I. J Inherit Metab Dis. 2006 Feb;29(1):230–1. [PubMed: 16601901]
4.
Arora RS, Mercer J, Thornley M, et al. Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p. Leu490Pro mutation. J Inherit Metab Dis. 2007 Oct;30(5):821. [PubMed: 17570076]
5.
Caceres-Marzal C, Garcia-Reymundo M, Solana J, et al. Decreased corneal opacity and improved vision in a patient with mucopolysaccharidosis I (Hurler-Scheie) treated with enzyme replacement therapy (laronidase, Aldurazyme) Am J Med Genet A. 2008 Jul 1;146A(13):1768–70. [PubMed: 18546328]
6.
Chen A, Dickson P. Intrathecal enzyme replacement therapy to treat spinal cord compression in mucopolysaccharidosis: Overview and rationale. Journal of Pediatric Rehabilitation Medicine. 2010;3(1):7–11. [PubMed: 21791827]
7.
Clarke LA, Heppner J. Mucopolysaccharidosis Type I. 1993. [PubMed: 20301341]
8.
Clarke LA, Wraith JE, Beck M, et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics. 2009 Jan;123(1):229–40. [PubMed: 19117887]
9.
El Dib RP, Pastores GM. Laronidase for treating mucopolysaccharidosis type I. Genet Mol Res. 2007;6(3):667–74. [PubMed: 18050087]
10.
Giugliani R, Rojas VM, Martins AM, et al. A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. Mol Genet Metab. 2009 Jan;96(1):13–9. [PubMed: 19038563]
11.
Grewal SS, Wynn R, Abdenur JE, et al. Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med. 2005 Feb;7(2):143–6. [PubMed: 15714083]
12.
Harada H, Uchiwa H, Nakamura M, et al. Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I. Mol Genet Metab. 2011 Jul;103(3):215–9. [PubMed: 21482163]
13.
Hirth A, Berg A, Greve G. Successful treatment of severe heart failure in an infant with Hurler syndrome. J Inherit Metab Dis. 2007 Oct;30(5):820. [PubMed: 17768668]
14.
Hoffmann B, Schulze-Frenking G, Al-Sawaf S, et al. Hunter disease before and during enzyme replacement therapy. Pediatric Neurology. 2011;45(3):181–4. [PubMed: 21824567]
15.
Kakkis ED. Enzyme replacement therapy for the mucopolysaccharide storage disorders. Expert Opinion on Investigational Drugs. 2002;11(5):675–85. [PubMed: 11996648]
16.
Kishnani PS, BurnsWechsler S, Li JS. Enzyme-deficiency metabolic cardiomyopathies and the role of enzyme replacement therapy. Progress in Pediatric Cardiology. 2007;23(1–2):39–48.
17.
Lin HY, Lin SP, Chuang CK, et al. Mucopolysaccharidosis I under enzyme replacement therapy with laronidase–a mortality case with autopsy report. J Inherit Metab Dis. 2005;28(6):1146–8. [PubMed: 16435211]
18.
McIntyre JA. Laronidase: Treatment of mucopolysaccharidosis I. Drugs of the Future. 2003;28(5):432–4.
19.
Miebach E. Enzyme replacement therapy in mucopolysaccharidosis type I. Acta Paediatr Suppl. 2005 Mar;94(447):58–60. discussion 57. [PubMed: 15895714]
20.
Muenzer J, Wraith JE, Clarke LA. Mucopolysaccharidosis I: Management and treatment guidelines. Pediatrics. 2009;123(1):19–29. [PubMed: 19117856]
21.
Munoz-Rojas MV, Vieira T, Costa R, et al. Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression. Am J Med Genet A. 2008 Oct 1;146A(19):2538–44. [PubMed: 18792977]
22.
Murillo-Lopez FH. Mucopolysaccharidosis type I therapy. Annals of Ophthalmology. 2005;37(4):235–6.
23.
Pastores GM. Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I. Expert Opin Biol Ther. 2008 Jul;8(7):1003–9. [PubMed: 18549329]
24.
Pastores GM. Therapeutic options for childhood-onset lysosomal storage disorders. Pediatric Health. 2008;2(1):21–32.
25.
Pitz S, Ogun O, Bajbouj M, et al. Ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy: a 4-year experience. Arch Ophthalmol. 2007 Oct;125(10):1353–6. [PubMed: 17923542]
26.
Rohrbach M, Clarke JTR. Treatment of lysosomal storage disorders: Progress with enzyme replacement therapy. Drugs. 2007;67(18):2697–716. [PubMed: 18062719]
27.
Sakuraba H, Sawada M, Matsuzawa F, et al. Molecular pathologies of and enzyme replacement therapies for lysosomal diseases. CNS and Neurological Disorders - Drug Targets. 2006;5(4):401–13. [PubMed: 16918392]
28.
Sifuentes M, Doroshow R, Hoft R, et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab. 2007 Feb;90(2):171–80. [PubMed: 17011223]
29.
Soutar RL, Mercer J, Wraith JE. Impact of 144 weeks of laronidase therapy on body functions, endurance and general well-being in a Hurler-Scheie patient. J Inherit Metab Dis. 2006 Aug;29(4):590. [PubMed: 16830264]
30.
Thomas JA, Jacobs S, Kierstein J, et al. Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome. J Inherit Metab Dis. 2006 Dec;29(6):762. [PubMed: 17089217]
31.
Tokic V, Barisic I, Huzjak N, et al. Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I. Eur J Pediatr. 2007 Jul;166(7):727–32. [PubMed: 17043838]
32.
Tolar J, Grewal SS, Bjoraker KJ, et al. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplantation. 2008;41(6):531–5. [PubMed: 18037941]
33.
Tylki-Szymanska A, Marucha J, Jurecka A, et al. Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients. J Inherit Metab Dis. 2010 Apr;33(2):151–7. [PubMed: 20217237]
34.
Tylki-Szymanska A, Rozdzynska A, Jurecka A, et al. Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase) Mol Genet Metab. 2010 Jan;99(1):10–7. [PubMed: 19783188]
35.
Valayannopoulos V, Boddaert N, Barbier V, et al. Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase. Mol Genet Metab. 2010 May;100(1):20–3. [PubMed: 20106688]
36.
Valayannopoulos V, Wijburg FA. Therapy for the mucopolysaccharidoses. Rheumatology (Oxford) 2011 Dec;50(Suppl 5):v49–59. [PubMed: 22210671]
37.
Viana GM, de Lima NO, Cavaleiro R, et al. Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy. Genetics and Molecular Biology. 2011;34(3):410–5. [PMC free article: PMC3168179] [PubMed: 21931511]
38.
Wang RY, Bodamer OA, Watson MS, et al. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457–84. [PubMed: 21502868]
39.
Wraith EJ, Hopwood JJ, Fuller M, et al. Laronidase treatment of mucopolysaccharidosis I. BioDrugs. 2005;19(1):1–7. [PubMed: 15691212]
40.
Wraith JE. The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother. 2005 Mar;6(3):489–506. [PubMed: 15794739]
41.
Wraith JE, Beck M, Lane R, et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase) Pediatrics. 2007 Jul;120(1):e37–46. [PubMed: 17606547]
42.
Wraith JE, Clarke LA, Beck M, et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase) J Pediatr. 2004 May;144(5):581–8. [PubMed: 15126990]
43.
Wynn RF, Mercer J, Page J, et al. Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients. J Pediatr. 2009 Jan;154(1):135–9. [PubMed: 19187736]
44.
Yano S, Moseley K, Pavlova Z. Postmortem studies on a patient with mucopolysaccharidosis type I: Histopathological findings after one year of enzyme replacement therapy. J Inherit Metab Dis. 2009 Mar 27 [PubMed: 19308670]
45.
Yosunkaya E, Karaca E, Yilmaz SB, et al. Sudden vision loss in a mucopolysaccharidosis I patient receiving enzyme replacement therapy. Genetic Counseling. 2011;22(4):371–6. [PubMed: 22303797]

MPS II

1.
Idursulfase: a poor risk-benefit balance in type II mucopolysaccharidosis. Prescrire Int. 2008 Jun;17(95):109. [PubMed: 18630351]
2.
Alcalde-Martin C, Muro-Tudelilla JM, Cancho-Candela R, et al. First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS) Eur J Med Genet. 2010 Nov–Dec;53(6):371–7. [PubMed: 20709629]
3.
Alegra T, Eizerik D, Cerqueira CCS, et al. A systematic literature review: Enzyme replacement therapy in mucopolysaccharidosis type II. Journal of Inherited Metabolic Disease. 2011;34:S230.
4.
Bal MO, Zanotti M, Bettocchi I, et al. Idursulfase therapy in a patient affected by muchopolysaccaridosis (MPS) type II. Journal of Inherited Metabolic Disease. 2011;34:S230.
5.
Beck M. Mucopolysaccharidosis Type II (Hunter Syndrome): clinical picture and treatment. Curr Pharm Biotechnol. 2011 Jun;12(6):861–6. [PubMed: 21235446]
6.
Beck M, Wraith E, Muenzer J, et al. Long-term weekly dosing of idursulfase in the treatment of mucopolysaccharidosis II (MPS II, Hunter syndrome) abstract. 2007. http://www​.mrw.interscience​.wiley.com/cochrane​/clcentral/articles​/799/CN-00723799/frame.html.
7.
Burrow TA, Hopkin RJ, Leslie ND, et al. Enzyme reconstitution/replacement therapy for lysosomal storage diseases. Curr Opin Pediatr. 2007 Dec;19(6):628–35. [PubMed: 18025928]
8.
Burrow TA, Leslie ND. Review of the use of idursulfase in the treatment of mucopolysaccharidosis II. Biologics. 2008 Jun;2(2):311–20. [PMC free article: PMC2721351] [PubMed: 19707363]
9.
Burton BK, Guffon N, Roberts J, et al. Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey. Mol Genet Metab. 2010 Oct–Nov;101(2–3):123–9. [PubMed: 20638311]
10.
Burton BK, Whiteman DA. Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS) Mol Genet Metab. 2011 Jun;103(2):113–20. [PubMed: 21439875]
11.
Galan-Gomez E, Guerrero-Rico A, Caceres-Marzal C, et al. Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome. Eur J Med Genet. 2008 May–Jun;51(3):268–71. [PubMed: 18396123]
12.
Jones SA, Almassy Z, Beck M, et al. Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS) J Inherit Metab Dis. 2009 Aug;32(4):534–43. [PubMed: 19597960]
13.
Jurecka A, Krumina Z, Zuber Z, et al. Mucopolysaccharidosis type II in females and response to enzyme replacement therapy. American Journal of Medical Genetics, Part A. 2012;158 A(2):450–4. [PubMed: 22246721]
14.
Manara R, Rampazzo A, Cananzi M, et al. Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution. J Inherit Metab Dis. 2010 Jan 6 [PubMed: 20052546]
15.
Marin LL, Gutierrez-Solana LG, Fernandez AT. Hunter Syndrome: Resolution of Extensive Typical Skin Lesions After 9 Months of Enzyme Replacement Therapy with Idursulfase. Pediatr Dermatol. 2011 Oct 13 [PubMed: 21995841]
16.
Miebach E. Management of infusion-related reactions to enzyme replacement therapy in a cohort of patients with mucopolysaccharidosis disorders. Int J Clin Pharmacol Ther. 2009;47(Suppl 1):S100–6. [PubMed: 20040319]
17.
Muenzer J, Beck M, Eng CM, et al. Multidisciplinary management of Hunter syndrome. Pediatrics. 2009 Dec;124(6):e1228–39. [PubMed: 19901005]
18.
Muenzer J, Beck M, Eng CM, et al. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med. 2011 Feb;13(2):95–101. [PubMed: 21150784]
19.
Muenzer J, Beck M, Giugliani R, et al. Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey. Genet Med. 2011 Feb;13(2):102–9. [PubMed: 21233716]
20.
Muenzer J, Bodamer O, Burton B, et al. The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. Eur J Pediatr. 2012 Jan;171(1):181–8. [PMC free article: PMC3249184] [PubMed: 22037758]
21.
Muenzer J, Gucsavas-Calikoglu M, McCandless SE, et al. A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome) Mol Genet Metab. 2007 Mar;90(3):329–37. [PubMed: 17185020]
22.
Muenzer J, Wraith JE, Beck M, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) Genet Med. 2006 Aug;8(8):465–73. [PubMed: 16912578]
23.
Okuyama T, Tanaka A, Suzuki Y, et al. Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II) Mol Genet Metab. 2010 Jan;99(1):18–25. [PubMed: 19773189]
24.
Papadia F, Lozupone MS, Gaeta A, et al. Long-term enzyme replacement therapy in a severe case of mucopolysaccharidosis type II (Hunter syndrome) Eur Rev Med Pharmacol Sci. 2011 Mar;15(3):253–8. [PubMed: 21528770]
25.
Scarpa M. Mucopolysaccharidosis Type II. 1993. [PubMed: 20301451]
26.
Scarpa M, Almassy Z, Beck M, et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet Journal of Rare Diseases. 2011;6(1) [PMC free article: PMC3223498] [PubMed: 22059643]
27.
Schulze-Frenking G, Jones SA, Roberts J, et al. Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II. J Inherit Metab Dis. 2011 Feb;34(1):203–8. [PMC free article: PMC3026660] [PubMed: 20978944]
28.
Sohn YB, Choi EW, Kim SJ, et al. Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases. American Journal of Medical Genetics, Part A. 2012;158 A(1):90–6. [PubMed: 22105882]
29.
Tylki-Szymanska A, Jurecka A, Rozdzynska A, et al. Enzyme replacement therapy in a 3-month-old boy with presymptomatic MPS II: 3-year follow-up. Journal of Inherited Metabolic Disease. 2011;34:S209.
30.
Uz B, Demiroglu H, Ozcebe OI. Hunter syndrome and new onset idiopathic thrombocytopenic purpura in a young patient. Annals of Hematology. 2012;91(2):303–4. [PubMed: 21556874]
31.
Wraith JE. Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II. Acta Paediatr Suppl. 2008 Apr;97(457):76–8. [PubMed: 18339193]
32.
Wraith JE, Scarpa M, Beck M, et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008 Mar;167(3):267–77. [PMC free article: PMC2234442] [PubMed: 18038146]
33.
Zareba G. Idursulfase in Hunter syndrome treatment. Drugs Today (Barc) 2007 Nov;43(11):759–67. [PubMed: 18174963]

MPS VI

1.
Galsulfase: arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB. Drugs R D. 2005;6(5):312–5. [PubMed: 16128602]
2.
Beck M. Galsulfase: Enzyme-replacement therapy for mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome) Therapy. 2006;3(1):9–17.
3.
But WM, Wong MY, Chow JCK, et al. Enzyme replacement therapy for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Experience in Hong Kong. Hong Kong Medical Journal. 2011;17(4):317–24. [PubMed: 21813902]
4.
El Dib RP, Pastores GM. A systematic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): focus on galsulfase. Biologics. 2009;3:459–68. [PMC free article: PMC2763316] [PubMed: 19851471]
5.
Furujo M, Kubo T, Kosuga M, et al. Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. Molecular Genetics and Metabolism. 2011;104(4):597–602. [PubMed: 21930407]
6.
Giugliani R, Carvalho CG, Herber S, et al. Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI. Curr Pharm Biotechnol. 2011 Jun;12(6):956–62. [PubMed: 21506914]
7.
Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007;120(2):405–18. [PubMed: 17671068]
8.
Harmatz P. Enzyme replacement therapy with galsulfase for mucopolysaccharidosis VI: clinical facts and figures. Turk J Pediatr. 2010 Sep–Oct;52(5):443–9. [PubMed: 21434527]
9.
Harmatz P, Ketteridge D, Giugliani R, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics. 2005;115(6):e681–e9. [PubMed: 15930196]
10.
Harmatz P, Whitley CB, Waber L, et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) J Pediatr. 2004 May;144(5):574–80. [PubMed: 15126989]
11.
Harmatz P, Yu ZF, Giugliani R, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Inherit Metab Dis. 2010 Feb;33(1):51–60. [PMC free article: PMC2828556] [PubMed: 20140523]
12.
Hendriksz CJ, Giugliani R, Harmatz P, et al. Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP) Journal of Inherited Metabolic Disease. 2011:1–12. [PubMed: 22127392]
13.
Jurecka A, Golda A, Opoka-Winiarska V, et al. Mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. Mol Genet Metab. 2011 Aug 27 [PubMed: 21917494]
14.
Koseoglu ST, Harmatz P, Turbeville S, et al. Reversed papilledema in an MPS VI patient with galsulfase (Naglazyme) therapy. Int Ophthalmol. 2009 Aug;29(4):267–9. [PMC free article: PMC2714452] [PubMed: 18418554]
15.
Pitz S, Ogun O, Arash L, et al. Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis? Graefes Arch Clin Exp Ophthalmol. 2009 Jul;247(7):975–80. [PubMed: 19159944]
16.
Sohn YB, Park SW, Kim SH, et al. Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation. American Journal of Medical Genetics, Part A. 2012 [PubMed: 22495825]
17.
Valayannopoulos V, Nicely H, Harmatz P, et al. Mucopolysaccharidosis VI. Orphanet J Rare Dis. 2010;5:5. [PMC free article: PMC2873242] [PubMed: 20385007]
18.
Whitley CB, Utz JR. Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): a single dose of galsulfase further reduces urine glycosaminoglycans after hematopoietic stem cell transplantation. Mol Genet Metab. 2010 Dec;101(4):346–8. [PubMed: 20800524]
19.
Wraith JE. Enzyme replacement therapy for the management of the mucopolysaccharidoses. Int J Clin Pharmacol Ther. 2009;47(Suppl 1):S63–5. [PubMed: 20040314]

Pompe Disease

1.
Alglucosidase alfa: new drug. Pompe disease: a short-term benefit. Prescrire Int. 2007 Dec;16(92):240–1. [PubMed: 18092404]
2.
Abbott MA, Prater SN, Banugaria SG, et al. Atypical immunologic response in a patient with CRIM-negative Pompe disease. Mol Genet Metab. 2011 Aug 11 [PMC free article: PMC3711241] [PubMed: 21889385]
3.
Angelini C, Semplicini C. Enzyme replacement therapy for pompe disease. Current Neurology and Neuroscience Reports. 2012;12(1):70–5. [PubMed: 22002767]
4.
Angelini C, Semplicini C, Tonin P, et al. Progress in enzyme replacement therapy in glycogen storage disease type II. Therapeutic Advances in Neurological Disorders. 2009;2(3):143–53. [PMC free article: PMC3002626] [PubMed: 21179524]
5.
Banugaria SG, Patel TT, Mackey J, et al. Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: Need for agents to target antibody-secreting plasma cells. Mol Genet Metab. 2012 Apr;105(4):677–80. [PMC free article: PMC3711263] [PubMed: 22365055]
6.
Beck M. Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease. Ther Clin Risk Manag. 2009;5:767–72. [PMC free article: PMC2754091] [PubMed: 19816575]
7.
Bernstein DL, Bialer MG, Mehta L, et al. Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Mol Genet Metab. 2010 Oct–Nov;101(2–3):130–3. [PubMed: 20638881]
8.
But WM, Lee SH, Chan AO, et al. Enzyme replacement therapy for infantile Pompe disease during the critical period and identification of a novel mutation. Hong Kong Med J. 2009 Dec;15(6):474–7. [PubMed: 19966354]
9.
Case LE, Beckemeyer AA, Kishnani PS. Infantile Pompe disease on ERT-Update on clinical presentation, musculoskeletal management, and exercise considerations. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2012;160 C(1):69–79. [PubMed: 22252989]
10.
Case LE, Hanna R, Frush DP, et al. Fractures in children with Pompe disease: a potential long-term complication. Pediatr Radiol. 2007 May;37(5):437–45. [PubMed: 17342521]
11.
Case LE, Koeberl DD, Young SP, et al. Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study. Mol Genet Metab. 2008 Dec;95(4):233–5. [PubMed: 18930676]
12.
Chien YH, Hwu WL. A review of treatment of Pompe disease in infants. Biologics. 2007 Sep;1(3):195–201. [PMC free article: PMC2721312] [PubMed: 19707330]
13.
Cho A, Kim SJ, Lim BC, et al. Infantile Pompe disease: Clinical and genetic characteristics with an experience of enzyme replacement therapy. Journal of Child Neurology. 2012;27(3):319–24. [PubMed: 21940687]
14.
Cook AL, Kishnani PS, Carboni MP, et al. Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease. Genet Med. 2006 May;8(5):313–7. [PubMed: 16702882]
15.
Corzo D, Byrne B, Hwu WL, et al. Alglucosidase Alfa (Myozyme(registered trademark)) in Infants and Children with Rapidly Progressive Pompe Disease. Clinical Therapeutics. 2008;30(SUPPL 1):S9–10.
16.
Cupler EJ, Berger KI, Leshner RT, et al. Consensus treatment recommendations for late-onset pompe disease. Muscle and Nerve. 2012;45(3):319–33. [PMC free article: PMC3534745] [PubMed: 22173792]
17.
De Vries J, Kroos M, Ozkan L, et al. Infusion-associated reactions and neutralizing antibody formation in an adult with pompe disease receiving alglucosidase alfa. Clinical Therapeutics. 2010;32:S72.
18.
de Vries JM, Brugma JD, Ozkan L, et al. First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. Mol Genet Metab. 2011 Dec;104(4):552–5. [PubMed: 21967859]
19.
Del Rizzo M, Fanin M, Cerutti A, et al. Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report. J Inherit Metab Dis. 2010 Sep 10 [PubMed: 20830524]
20.
Desnuelle C, Salviati L. Challenges in diagnosis and treatment of late-onset Pompe disease. Current Opinion in Neurology. 2011;24(5):443–8. [PubMed: 21892081]
21.
Fidzianska A, Lugowska A, Tylki-Szymanska A. Late form of Pompe disease with glycogen storage in peripheral nerves axons. J Neurol Sci. 2011 Feb 15;301(1–2):59–62. [PubMed: 21109266]
22.
Fukuda T, Roberts A, Plotz PH, et al. Acid alpha-glucosidase deficiency (Pompe disease) Curr Neurol Neurosci Rep. 2007 Jan;7(1):71–7. [PubMed: 17217857]
23.
Furusawa Y, Mori-Yoshimura M, Yamamoto T, et al. Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study. J Inherit Metab Dis. 2012 Mar;35(2):301–10. [PubMed: 21984055]
24.
Ishigaki K, Murakami T, Nakanishi T, et al. Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease. Brain and Development. 2012;34(2):98–102. [PubMed: 21676566]
25.
Jones HN, Moss T, Edwards L, et al. Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease. Mol Genet Metab. 2011 Nov;104(3):417–20. [PubMed: 21641843]
26.
Jones HN, Muller CW, Lin M, et al. Oropharyngeal dysphagia in infants and children with infantile Pompe disease. Dysphagia. 2010 Dec;25(4):277–83. [PubMed: 19763689]
27.
Kishnani PS, Beckemeyer AA, Mendelsohn NJ. The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160(1):1–7. [PubMed: 22253049]
28.
Kishnani PS, Corzo D, Leslie ND, et al. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res. 2009 Sep;66(3):329–35. [PMC free article: PMC3129995] [PubMed: 19542901]
29.
Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007 Jan 9;68(2):99–109. [PubMed: 17151339]
30.
Kishnani PS, Nicolino M, Voit T, et al. Results from phase II trial of chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006 Jul;149(1):89–97. [PMC free article: PMC2692727] [PubMed: 16860134]
31.
Kobayashi H, Shimada Y, Ikegami M, et al. Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case. Mol Genet Metab. 2010 May;100(1):14–9. [PubMed: 20202878]
32.
Koeberl DD, Kishnani PS. Pompe’s disease: Enzyme replacement therapy. Drugs of the Future. 2007;32(12):1067–70.
33.
Koeberl DD, Kishnani PS, Chen YT. Glycogen storage disease types I and II: treatment updates. J Inherit Metab Dis. 2007 Apr;30(2):159–64. [PMC free article: PMC2692363] [PubMed: 17308886]
34.
Levine JC, Kishnani PS, Chen YT, et al. Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease. Pediatr Cardiol. 2008 Nov;29(6):1033–42. [PMC free article: PMC2683920] [PubMed: 18661169]
35.
McDowell R, Li JS, Benjamin DK Jr, et al. Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease. Genet Med. 2008 Oct;10(10):758–62. [PMC free article: PMC3612889] [PubMed: 18813140]
36.
McVie-Wylie AJ, Lee KL, Qiu H, et al. Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease. Mol Genet Metab. 2008 Aug;94(4):448–55. [PMC free article: PMC2774491] [PubMed: 18538603]
37.
Mellies U, Lofaso F. Pompe disease: a neuromuscular disease with respiratory muscle involvement. Respir Med. 2009 Apr;103(4):477–84. [PubMed: 19131232]
38.
Merk T, Wibmer T, Schumann C, et al. Glycogen storage disease type II (Pompe disease)–influence of enzyme replacement therapy in adults. Eur J Neurol. 2009 Feb;16(2):274–7. [PubMed: 19138339]
39.
Nicolino M, Byrne B, Wraith JE, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009 Mar;11(3):210–9. [PubMed: 19287243]
40.
Orlikowski D, Pellegrini N, Prigent H, et al. Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease. Neuromuscul Disord. 2011 Jul;21(7):477–82. [PubMed: 21550241]
41.
Papadimas GK, Spengos K, Konstantinopoulou A, et al. Adult Pompe disease: clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapy. Clin Neurol Neurosurg. 2011 May;113(4):303–7. [PubMed: 21216089]
42.
Parenti G, Andria G. Pompe disease: from new views on pathophysiology to innovative therapeutic strategies. Curr Pharm Biotechnol. 2011 Jun;12(6):902–15. [PubMed: 21235442]
43.
Pascual SI. Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme. Adv Exp Med Biol. 2009;652:39–46. [PubMed: 20225018]
44.
Pascual-Pascual SI, Rubio P, Albajara L, et al. Sudden deterioration in nonclassical infantile-onset Pompe disease responding to alglucosidase alfa infusion therapy: a case report. J Inherit Metab Dis. 2006 Dec;29(6):763. [PubMed: 17041744]
45.
Pastores GM, Hughes DA. Enzyme-replacement therapy for Pompe disease. Pediatric Health. 2009;3(1):41–9.
46.
Pereira SJ, Berditchevisky CR, Marie SK. Report of the first Brazilian infantile Pompe disease patient to be treated with recombinant human acid alpha-glucosidase. J Pediatr (Rio J) 2008 May–Jun;84(3):272–5. [PubMed: 18535739]
47.
Ravaglia S, Danesino C, Pichiecchio A, et al. Enzyme replacement therapy in severe adult-onset glycogen storage disease type II. Adv Ther. 2008 Aug;25(8):820–9. [PubMed: 18704279]
48.
Regnery C, Kornblum C, Hanisch F, et al. 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis. 2012 Jan 31 [PubMed: 22290025]
49.
Richard E, Douillard-Guilloux G, Caillaud C. New insights into therapeutic options for Pompe disease. IUBMB Life. 2011 Nov;63(11):979–86. [PubMed: 22002928]
50.
Schoser B, Hill V, Raben N. Therapeutic approaches in glycogen storage disease type II/Pompe Disease. Neurotherapeutics. 2008 Oct;5(4):569–78. [PMC free article: PMC2761605] [PubMed: 19019308]
51.
Spiridigliozzi GA, Heller JH, Case LE, et al. Early cognitive development in children with infantile Pompe disease. Mol Genet Metab. 2012 Mar;105(3):428–32. [PubMed: 22217428]
52.
Spiridigliozzi GA, Heller JH, Kishnani PS. Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160(1):22–9. [PubMed: 22253038]
53.
Strothotte S, Strigl-Pill N, Grunert B, et al. Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol. 2010 Jan;257(1):91–7. [PubMed: 19649685]
54.
Sun B, Bird A, Young SP, et al. Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance. Am J Hum Genet. 2007 Nov;81(5):1042–9. [PMC free article: PMC2265658] [PubMed: 17924344]
55.
Terzis G, Dimopoulos F, Papadimas GK, et al. Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy. Molecular Genetics and Metabolism. 2011;104(3):279–83. [PubMed: 21640624]
56.
Thurberg BL, Lynch Maloney C, Vaccaro C, et al. Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest. 2006 Dec;86(12):1208–20. [PubMed: 17075580]
57.
Tinkle BT, Leslie N. Glycogen Storage Disease Type II (Pompe Disease) 1993. [PubMed: 20301438]
58.
van Capelle CI, van der Beek NAME, Hagemans MLC, et al. Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study. Neuromuscular Disorders. 2010;20(12):775–82. [PubMed: 20817528]
59.
van der Ploeg AT. Where do we stand in enzyme replacement therapy in Pompe’s disease? Neuromuscular Disorders. 2010;20(12):773–4. [PubMed: 21094929]
60.
van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med. 2010 Apr 15;362(15):1396–406. [PubMed: 20393176]
61.
van der Ploeg AT, Reuser AJ. Pompe’s disease. Lancet. 2008 Oct 11;372(9646):1342–53. [PubMed: 18929906]
62.
Vielhaber S, Brejova A, Debska-Vielhaber G, et al. 24-months results in two adults with Pompe disease on enzyme replacement therapy. Clin Neurol Neurosurg. 2011 Jun;113(5):350–7. [PubMed: 21477922]
63.
Yang CC, Chien YH, Lee NC, et al. Rapid progressive course of later-onset Pompe disease in Chinese patients. Mol Genet Metab. 2011 Nov;104(3):284–8. [PubMed: 21757382]
64.
Yanovitch TL, Casey R, Banugaria SG, et al. Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease. J Neuroophthalmol. 2010 Jun;30(2):165–6. [PubMed: 20404746]
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