[Heterogeneity of glycogenosis with alpha-1,4-glucosidase deficiency: enzymatic studies in three families (author's transl)].
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.
D000906:Antibodies / Q000032:analysis; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005959:Glucosidases / Q000172:deficiency*; D006008:Glycogen Storage Disease / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology; D000520:alpha-Glucosidases / Q000172:deficiency* / Q000276:immunology / Q000302:isolation & purification
D000906:Antibodies; D005959:Glucosidases; D000520:alpha-Glucosidases
Hétérogénéité de la glycogénose par déficit en alpha-1,4-glucosidase: etude enzymatique dans trois familles.