Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience

Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of all tissues, most notably in skeletal musc...

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Détails bibliographiques
Auteurs principaux: Fu Liong, Hiew, Abdul Wahab, Siti Aishah, Yakob, Yusnita, Lock Hock, Ngu, Thong, Wong Kum, Viswanathan, Shanthi
Format: Artigo
Langue:Inglês
Publié: Hindawi Publishing Corporation 2014
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4100255/
https://ncbi.nlm.nih.gov/pubmed/25093132
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/926510
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