Pompe disease: Design, methodology, and early findings from the Pompe Registry

Author:

Byrne Barry J.,Kishnani Priya S.,Case Laura E.,Merlini Luciano,Müller-Felber Wolfgang,Prasad Suyash,der Ploeg Ans van

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference57 articles.

1. R. Hirschhorn, A.J.J. Reuser, Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency, in: D. Valle, A.L. Beaudet, B. Vogelstein, K.W. Kinzler, S.E. Antonarakis, A. Ballabio (Eds.), The Metabolic & Molecular Bases of Inherited Disease, McGraw-Hill, New York (2001).

2. Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease;Raben;Hum. Mol. Genet.,2008

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

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

5. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients;Hagemans;Brain,2005

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