MUTATIONS OF GLUCOCEREBROSIDASE - DISCRIMINATION OF NEUROLOGIC AND NON-NEUROLOGIC PHENOTYPES OF GAUCHER DISEASE

被引：125

作者：

GINNS, EI ^{[1
]}

BRADY, RO ^{[1
]}

PIRRUCCELLO, S ^{[1
]}

MOORE, C ^{[1
]}

SORRELL, S ^{[1
]}

FURBISH, FS ^{[1
]}

MURRAY, GJ ^{[1
]}

TAGER, J ^{[1
]}

BARRANGER, JA ^{[1
]}

机构：

[1] UNIV AMSTERDAM,BIOCHEM LAB,AMSTERDAM,NETHERLANDS

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES | 1982年 / 79卷 / 18期

关键词：

D O I：

10.1073/pnas.79.18.5607

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：5607 / 5610

页数：4

共 36 条

[1] METABOLISM OF SPHINGOMYELIN BY INTACT CULTURED FIBROBLASTS - DIFFERENTIATION OF NIEMANN-PICK DISEASE TYPE-A AND TYPE-B [J].

BEAUDET, AL ;

MANSCHRECK, AA .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1982, 105 (01) :14-19

[2]

BEUTLER E, 1970, J LAB CLIN MED, V76, P747

[3]

BRADFORD MM, 1976, ANAL BIOCHEM, V72, P248, DOI 10.1016/0003-2697(76)90527-3

[4]

BRADY RO, 1978, METABOLIC BASIS INHE, P731

[5]

BUTTERWORTH J, 1978, CLIN GENET, V14, P77

[6] ACID BETA-GLUCOSIDASE AND DIAGNOSIS OF GAUCHER DISEASE IN LIVER AND SPLEEN [J].

BUTTERWORTH, J ;

BROADHEAD, DM .

CLINICA CHIMICA ACTA, 1978, 87 (03) :433-440

[7]

CARROLL M, 1981, BIOCH SOC T, P129

[8] GAUCHERS-DISEASE .2. STUDIES ON THE KINETICS OF BETA-GLUCOSIDASE AND THE EFFECTS OF SODIUM TAUROCHOLATE IN NORMAL AND GAUCHER TISSUES [J].

CHOY, FYM ;

DAVIDSON, RG .

PEDIATRIC RESEARCH, 1980, 14 (01) :54-59

[9] GAUCHERS-DISEASE .1. SOLUBILIZATION AND ELECTROPHORESIS OF BETA-GLUCOSIDASE FROM LEUKOCYTES AND CULTURED FIBROBLASTS [J].

CHOY, FYM ;

DAVIDSON, RG .

PEDIATRIC RESEARCH, 1978, 12 (12) :1115-1120

[10]

DANIELS LB, 1981, J BIOL CHEM, V256

← 1 2 3 4 →