Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.

The molecular basis of clinical diversity in glycogenosis type II (Pompe's disease) was investigated by comparing the nature of acid alpha-glucosidase deficiency in cultured fibroblasts from 30 patients. Biosynthetic forms of acid alpha-glucosidase with different molecular mass were separated e...

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Bibliographic Details
Main Authors: Reuser, A J, Kroos, M, Willemsen, R, Swallow, D, Tager, J M, Galjaard, H
Format: Artigo
Language:Inglês
Published: 1987
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC424503/
https://ncbi.nlm.nih.gov/pubmed/3108320
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