Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting-Reference-Cited by-同舟云学术

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Published:2008-03 Issue:3 Volume:93 Page:275-281
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Winchester B.,Bali D.,Bodamer O.A.,Caillaud C.,Christensen E.,Cooper A.,Cupler E.,Deschauer M.,Fumić K.,Jackson M.,Kishnani P.,Lacerda L.,Ledvinová J.,Lugowska A.,Lukacs Z.,Maire I.,Mandel H.,Mengel E.,Müller-Felber W.,Piraud M.,Reuser A.,Rupar T.,Sinigerska I.,Szlago M.,Verheijen F.,van Diggelen O.P.,Wuyts B.,Zakharova E.,Keutzer J.

Publisher

Elsevier BV

Subject

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

Reference35 articles.

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3. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease;Martiniuk;Am. J. Med. Genet.,1998

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. Infantile-Onset Pompe Disease Natural History Study Group, a retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease;Kishnani;J. Pediatr.,2006

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