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A case of myoglycogen storage disease with reduced acid α‐glucosidase activity in the fibroblasts but not in the muscle
Author(s) -
Koster J. F.,
Slee R. G.,
Busch H. F. M.,
Arts W. F. F.,
Hoeksema J.
Publication year - 1981
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02263633
Subject(s) - glycogen storage disease , glycogen , cytosol , metabolic disease , biochemistry , disease , endocrinology , biology , medicine , chemistry , enzyme
A case of muscle glycogen storage disease with the glycogen located in the cytosol is described. A variant α‐glucosidase has been demonstrated in this patient but the cause of the metabolic disorder is still unclear.