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  • Title: [Heterogeneity of glycogenosis with alpha-1,4-glucosidase deficiency: enzymatic studies in three families (author's transl)].
    Author: Bienvenu J, Carrier H, Freycon F, Mathieu M.
    Journal: Clin Chim Acta; 1978 Mar 15; 84(3):277-92. PubMed ID: 346265.
    Abstract:
    The authors describe four cases of atypical forms of glycogenosis with alpha-1,4-glucosidase (acid maltase) deficiency. The results of clinical, microscopic, histochemical, enzymological and immunological studies are described. Acid maltase activity has been studied in muscle, leukocytes and fibroblasts. The authors show no difference in the properties of acid maltase; the authors study the purified enzyme from various tissues.
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