The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

Author:

Kuperus Esther,van der Meijden Jan C.,in ’t Groen Stijn L. M.,Kroos Marian A.,Hoogeveen-Westerveld Marianne,Rizopoulos Dimitris,Martinez Monica Yasmin Nino,Kruijshaar Michelle E.,van Doorn Pieter A.,van der Beek Nadine A. M. E.ORCID,van der Ploeg Ans T.ORCID,Pijnappel W. W. M. PimORCID

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference49 articles.

1. The Metabolic and Molecular Bases of Inherited Disease;R Hirschhorn,2001

2. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature;HM van den Hout;Pediatrics,2003

3. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease;PS Kishnani;J Pediatr,2006

4. Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease;NA Beek;Neuromuscul Disord,2009

5. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study;NA Beek;Orphanet J Rare Dis,2012

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