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Results: 1 to 20 of 541

1.

Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.

van der Beek NA, Hagemans ML, van der Ploeg AT, Reuser AJ, van Doorn PA.

Acta Neurol Belg. 2006 Jun;106(2):82-6. Review.

PMID:
16898258
[PubMed - indexed for MEDLINE]
2.

Pompe disease: current state of treatment modalities and animal models.

Geel TM, McLaughlin PM, de Leij LF, Ruiters MH, Niezen-Koning KE.

Mol Genet Metab. 2007 Dec;92(4):299-307. Epub 2007 Sep 7. Review.

PMID:
17826266
[PubMed - indexed for MEDLINE]
3.

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, Vulto AG, Cromme-Dijkhuis A, Weisglas-Kuperus N, Hop W, Van Hirtum H, Van Diggelen OP, Boer M, Kroos MA, Van Doorn PA, Van der Voort E, Sibbles B, Van Corven EJ, Brakenhoff JP, Van Hove J, Smeitink JA, de Jong G, Reuser AJ, Van der Ploeg AT.

Pediatrics. 2004 May;113(5):e448-57.

PMID:
15121988
[PubMed - indexed for MEDLINE]
4.

Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme.

Pascual SI.

Adv Exp Med Biol. 2009;652:39-46. doi: 10.1007/978-90-481-2813-6_4. Review.

PMID:
20225018
[PubMed - indexed for MEDLINE]
5.

Enzyme replacement therapy for infantile Pompe disease during the critical period and identification of a novel mutation.

But WM, Lee SH, Chan AO, Lau GT.

Hong Kong Med J. 2009 Dec;15(6):474-7.

PMID:
19966354
[PubMed - indexed for MEDLINE]
Free Article
6.

Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

Raben N, Fukuda T, Gilbert AL, de Jong D, Thurberg BL, Mattaliano RJ, Meikle P, Hopwood JJ, Nagashima K, Nagaraju K, Plotz PH.

Mol Ther. 2005 Jan;11(1):48-56.

PMID:
15585405
[PubMed - indexed for MEDLINE]
7.

Fractures in children with Pompe disease: a potential long-term complication.

Case LE, Hanna R, Frush DP, Krishnamurthy V, DeArmey S, Mackey J, Boney A, Morgan C, Corzo D, Bouchard S, Weber TJ, Chen YT, Kishnani PS.

Pediatr Radiol. 2007 May;37(5):437-45. Epub 2007 Mar 7.

PMID:
17342521
[PubMed - indexed for MEDLINE]
8.

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy.

Winkel LP, Kamphoven JH, van den Hout HJ, Severijnen LA, van Doorn PA, Reuser AJ, van der Ploeg AT.

Muscle Nerve. 2003 Jun;27(6):743-51.

PMID:
12766987
[PubMed - indexed for MEDLINE]
9.

Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.

Verloes A, Massin M, Lombet J, Grattagliano B, Soyeur D, Rigo J, Koulischer L, Van Hoof F.

Am J Med Genet. 1997 Oct 17;72(2):135-42.

PMID:
9382133
[PubMed - indexed for MEDLINE]
10.

Acid alpha-glucosidase deficiency (Pompe disease).

Fukuda T, Roberts A, Plotz PH, Raben N.

Curr Neurol Neurosci Rep. 2007 Jan;7(1):71-7. Review.

PMID:
17217857
[PubMed - indexed for MEDLINE]
11.

[A retrospective study of six patients with late-onset Pompe disease].

Saux A, Laforet P, Pagès AM, Figarella-Branger D, Pellissier JF, Pagès M, Labauge P.

Rev Neurol (Paris). 2008 Apr;164(4):336-42. doi: 10.1016/j.neurol.2007.09.008. French.

PMID:
18439925
[PubMed - indexed for MEDLINE]
12.

Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study.

Klinge L, Straub V, Neudorf U, Voit T.

Neuropediatrics. 2005 Feb;36(1):6-11.

PMID:
15776317
[PubMed - indexed for MEDLINE]
13.

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease.

Thurberg BL, Lynch Maloney C, Vaccaro C, Afonso K, Tsai AC, Bossen E, Kishnani PS, O'Callaghan M.

Lab Invest. 2006 Dec;86(12):1208-20. Epub 2006 Oct 30.

PMID:
17075580
[PubMed - indexed for MEDLINE]
Free Article
14.

Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells.

Rossi M, Parenti G, Della Casa R, Romano A, Mansi G, Agovino T, Rosapepe F, Vosa C, Del Giudice E, Andria G.

J Child Neurol. 2007 May;22(5):565-73.

PMID:
17690063
[PubMed - indexed for MEDLINE]
15.

Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy.

Katzin LW, Amato AA.

J Clin Neuromuscul Dis. 2008 Jun;9(4):421-31. doi: 10.1097/CND.0b013e318176dbe4. Review.

PMID:
18525427
[PubMed - indexed for MEDLINE]
16.

Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.

Kikuchi T, Yang HW, Pennybacker M, Ichihara N, Mizutani M, Van Hove JL, Chen YT.

J Clin Invest. 1998 Feb 15;101(4):827-33.

PMID:
9466978
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Glycogen storage disease type II (Pompe disease)--influence of enzyme replacement therapy in adults.

Merk T, Wibmer T, Schumann C, Krüger S.

Eur J Neurol. 2009 Feb;16(2):274-7. doi: 10.1111/j.1468-1331.2008.02377.x. Epub 2008 Dec 9.

PMID:
19138339
[PubMed - indexed for MEDLINE]
18.

Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients.

Bernstein DL, Bialer MG, Mehta L, Desnick RJ.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):130-3. doi: 10.1016/j.ymgme.2010.06.003. Epub 2010 Jun 22.

PMID:
20638881
[PubMed - indexed for MEDLINE]
19.

[Pompe's disease. Part II. Treatment strategies and enzyme replacement].

Illés Z, Várdi Visy K.

Ideggyogy Sz. 2009 Sep 30;62(9-10):299-307. Review. Hungarian.

PMID:
19835271
[PubMed - indexed for MEDLINE]
20.

Anaesthetic management of infants with glycogen storage disease type II: a physiological approach.

Ing RJ, Cook DR, Bengur RA, Williams EA, Eck J, Dear Gde L, Ross AK, Kern FH, Kishnani PS.

Paediatr Anaesth. 2004 Jun;14(6):514-9.

PMID:
15153218
[PubMed - indexed for MEDLINE]

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