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Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.

Different clinical expressions of acid alpha-glucosidase deficiency have been described. The present study was undertaken to investigate the basic metabolic defect in the infantile and adult forms of the disease. Acid alpha-glucosidase (EC 3.2.1.20) was purified from normal and from adult acid alpha...

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Detalhes bibliográficos
Main Authors: Beratis, N G, LaBadie, G U, Hirschhorn, K
Formato: Artigo
Idioma:Inglês
Publicado em: 1978
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC371892/
https://ncbi.nlm.nih.gov/pubmed/34626
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