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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Fu Liong, Hiew, Abdul Wahab, Siti Aishah, Yakob, Yusnita, Lock Hock, Ngu, Thong, Wong Kum, Viswanathan, Shanthi
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Hindawi Publishing Corporation 2014
Pynciau:
Case Report
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg