HETEROGENEITY OF GLYCOGENOSIS WITH ALPHA-1,4-GLUCOSIDASE DEFICIENCY - ENZYMATIC STUDIES IN 3 FAMILIES

被引：7

作者：

BIENVENU, J

CARRIER, H

FREYCON, F

MATHIEU, M

机构：

[1] HOP NEUROL, NEUROPATHOL LAB, F-69394 LYON 3, FRANCE

[2] HOP BELLEVUE, SERV PEDIAT, F-42100 ST ETIENNE, FRANCE

来源：

CLINICA CHIMICA ACTA | 1978年 / 84卷 / 03期

关键词：

D O I：

10.1016/0009-8981(78)90244-9

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

引用

页码：277 / 292

页数：16

共 17 条

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ASKANAS, V ;

ENGEL, WK ;

DIMAURO, S ;

BROOKS, BR ;

MEHLER, M .

NEW ENGLAND JOURNAL OF MEDICINE, 1976, 294 (11) :573-578

[2]

BRUNI CB, 1969, J BIOL CHEM, V244, P4735

[3]

CARRIER H, 1975, PATHOL EUR, V10, P51

[4]

COLLOMBEL C, 1977, PROBLEMES ACTUELS BI, P179

[5]

DEBARSY T, 1976, THESIS

[6] VERGLEICHENDE UNTERSUCHUNGEN ZUR QUANTITATIVEN EIWEISSBESTIMMUNG IM LIQUOR UND EIWEISSARMEN LOSUNGEN [J].

EGGSTEIN, M ;

KREUTZ, FH .

KLINISCHE WOCHENSCHRIFT, 1955, 33 (37-8) :879-884

[7] ACID MALTASE DEFICIENCY IN ADULTS - STUDIES IN 4 CASES OF A SYNDROME WHICH MAY MIMIC MUSCULAR DYSTROPHY OR OTHER MYOPATHIES [J].

ENGEL, AG .

BRAIN, 1970, 93 :599-+

[8]

GALJAARD H, 1974, ENZYME THERAPY LYSOS, P35

[9]

HERS H. G., 1964, ADVAN METAB DISORDERS, V1, P1

[10] ALPHA-GLUCOSIDASE DEFICIENCY IN GENERALIZED GLYCOGEN-STORAGE DISEASE (POMPES DISEASE) [J].

HERS, HG .

BIOCHEMICAL JOURNAL, 1963, 86 (01) :11-&

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