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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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| Main Authors: | , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Hindawi Publishing Corporation
2014
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| נושאים: | |
| גישה מקוונת: | 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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