HEREDITY OF LEUKOCYTE PHOSPHORYLASE AND AMYLO-1,6-GLUCOSIDASE DEFICIENCY

被引:11
作者
ESMANN, V
HOBOLTH, N
JORGENSEN, JI
机构
[1] Department of Medicine, Marselisborg Hospital, Aarhus University Medical School, Aarhus C
[2] Department ofPediatrics, Amts- og Bysygehuset, Kolding
关键词
D O I
10.1016/S0022-3476(69)80012-0
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
The pattern of leukocyte phosphorylase activity was studied in family members of a boy with phosphorylase-deficient glycogen storage disease; the results are best explained by assuming a sex-linked mode of inheritance. In a study of another family with a boy who had amylo-1,6-glucosidase deficiency, the leukocyte amylo-1,6-glucosidase activity was low in the cells from the proband and his mother, whereas the maternal grandparents had normal enzyme activity. © 1969 The C. V. Mosby Company.
引用
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页码:90 / +
页数:1
相关论文
共 11 条
[1]   EFFECT OF INSULIN ON HUMAN LEUCOCYTES [J].
ESMANN, V .
DIABETES, 1963, 12 (06) :545-&
[2]  
Esmann V, 1968, Diabetologia, V4, P181, DOI 10.1007/BF00430093
[3]  
HERS H G, 1959, Rev Int Hepatol, V9, P35
[6]  
HULSMANN WC, 1961, LANCET, V2, P581
[7]   AMYLO-1,6-GLUCOSIDASE ACTIVITY IN LEUCOCYTES FROM PATIENTS WITH GLYCOGEN STORAGE DISEASE [J].
STEINITZ, K ;
BODUR, H ;
ARMAN, T .
CLINICA CHIMICA ACTA, 1963, 8 (05) :807-&
[8]   STUDIES IN GLYCOGEN STORAGE DISEASE .3. LIMIT DEXTRINOSIS - A GENETIC STUDY [J].
WILLIAMS, C ;
FIELD, JB .
JOURNAL OF PEDIATRICS, 1968, 72 (02) :214-+
[9]  
WILLIAMS HE, 1963, METABOLISM, V12, P464
[10]   LEUKOCYTE DEBRANCHING ENZYME IN GLYCOGEN STORAGE DISEASE [J].
WILLIAMS, HE ;
FIELD, JB ;
KENDIG, EM .
JOURNAL OF CLINICAL INVESTIGATION, 1963, 42 (05) :656-&