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Items: 1 to 20 of 189

1.

Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.

Del Rizzo M, Fanin M, Cerutti A, Cazzorla C, Milanesi O, Nascimbeni AC, Angelini C, Giordano L, Bordugo A, Burlina AB.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S389-93. doi: 10.1007/s10545-010-9195-2. Epub 2010 Sep 10.

PMID:
20830524
2.

Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results.

Hamdan MA, Almalik MH, Mirghani HM.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S431-6. doi: 10.1007/s10545-008-1000-0. Epub 2008 Dec 12.

PMID:
19067231
3.

Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy.

Barker PC, Pasquali SK, Darty S, Ing RJ, Li JS, Kim RJ, DeArmey S, Kishnani PS, Campbell MJ.

Mol Genet Metab. 2010 Dec;101(4):332-7. doi: 10.1016/j.ymgme.2010.07.011. Epub 2010 Jul 23.

4.

Antenatal diagnosis of pompe disease by fetal echocardiography: impact on outcome after early initiation of enzyme replacement therapy.

Hamdan MA, El-Zoabi BA, Begam MA, Mirghani HM, Almalik MH.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S333-9. doi: 10.1007/s10545-010-9179-2. Epub 2010 Sep 4.

PMID:
20821053
5.

Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.

Levine JC, Kishnani PS, Chen YT, Herlong JR, Li JS.

Pediatr Cardiol. 2008 Nov;29(6):1033-42. doi: 10.1007/s00246-008-9267-3. Epub 2008 Jul 26.

6.

Pompe disease: early diagnosis and early treatment make a difference.

Chien YH, Hwu WL, Lee NC.

Pediatr Neonatol. 2013 Aug;54(4):219-27. doi: 10.1016/j.pedneo.2013.03.009. Epub 2013 Apr 28. Review.

7.

CRIM-negative infantile Pompe disease: 42-month treatment outcome.

Rohrbach M, Klein A, Köhli-Wiesner A, Veraguth D, Scheer I, Balmer C, Lauener R, Baumgartner MR.

J Inherit Metab Dis. 2010 Dec;33(6):751-7. doi: 10.1007/s10545-010-9209-0. Epub 2010 Sep 30.

PMID:
20882352
8.

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.

Prater SN, Patel TT, Buckley AF, Mandel H, Vlodavski E, Banugaria SG, Feeney EJ, Raben N, Kishnani PS.

Orphanet J Rare Dis. 2013 Jun 20;8:90. doi: 10.1186/1750-1172-8-90.

9.

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.

van Gelder CM, Hoogeveen-Westerveld M, Kroos MA, Plug I, van der Ploeg AT, Reuser AJ.

J Inherit Metab Dis. 2015 Mar;38(2):305-14. doi: 10.1007/s10545-014-9707-6. Epub 2014 Apr 9.

10.

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
11.

[Variability in the clinical presentation of Pompe disease in infancy: two case reports and response to treatment with human recombinant enzyme].

Moreno-Medinilla E, Berzosa-López R, Mora-Ramírez MD, Blasco-Alonso J, Martínez-Antón J.

Rev Neurol. 2014 Dec 1;59(11):503-7. Spanish.

12.

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
13.
14.

A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease.

Wang Z, Okamoto P, Keutzer J.

Mol Genet Metab. 2014 Feb;111(2):92-100. doi: 10.1016/j.ymgme.2013.08.010. Epub 2013 Aug 29.

15.

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.

Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B.

J Neurol. 2010 Jan;257(1):91-7. doi: 10.1007/s00415-009-5275-3. Epub 2009 Aug 1.

PMID:
19649685
16.

Electrocardiographic response to enzyme replacement therapy for Pompe disease.

Ansong AK, Li JS, Nozik-Grayck E, Ing R, Kravitz RM, Idriss SF, Kanter RJ, Rice H, Chen YT, Kishnani PS.

Genet Med. 2006 May;8(5):297-301.

PMID:
16702879
17.

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
18.

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gökce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E.

Orphanet J Rare Dis. 2012 Jun 7;7:35. doi: 10.1186/1750-1172-7-35.

19.

New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond.

Kishnani PS, Beckemeyer AA.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:114-24. Review.

PMID:
25345093
20.

Atypical immunologic response in a patient with CRIM-negative Pompe disease.

Abbott MA, Prater SN, Banugaria SG, Richards SM, Young SP, Rosenberg AS, Kishnani PS.

Mol Genet Metab. 2011 Dec;104(4):583-6. doi: 10.1016/j.ymgme.2011.08.003. Epub 2011 Aug 11.

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