DIAGNOSIS OF NIEMANN-PICK DISEASE USING A SIMPLE AND SENSITIVE FLUORIMETRIC ASSAY OF SPHINGOMYELINASE ACTIVITY

被引：21

作者：

BESLEY, GTN ^{[1
]}

机构：

[1] UNIV EDINBURGH,EDINBURGH EH9 1LF,SCOTLAND

来源：

CLINICA CHIMICA ACTA | 1978年 / 90卷 / 03期

关键词：

D O I：

10.1016/0009-8981(78)90266-8

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：269 / 278

页数：10

共 19 条

[1] KRABBES GLOBOID-CELL LEUCODYSTROPHY - STUDIES ON GALACTOSYLCERAMIDE BETA-GALACTOSIDASE AND NONSPECIFIC BETA-GALACTOSIDASE OF LEUKOCYTES, CULTURED SKIN FIBROBLASTS, AND AMNIOTIC-FLUID CELLS
BESLEY, GTN
BAIN, AD
[J]. JOURNAL OF MEDICAL GENETICS, 1976, 13 (03) : 195 - 199
[2] SPHINGOMYELINASE DEFECT IN NIEMANN-PICK DISEASE, TYPE-C, FIBROBLASTS
BESLEY, GTN
[J]. FEBS LETTERS, 1977, 80 (01) : 71 - 74
[3] EFFECT OF TRITON X-100 ON ISOELECTRIC-FOCUSING PROFILE OF FIBROBLAST SPHINGOMYELINASE
BESLEY, GTN
[J]. FEBS LETTERS, 1976, 72 (01) : 101 - 104
[4] BESLEY GTN, J INHER METAB DIS
[5] METABOLISM OF SPHINGOMYELIN .2. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN NIEMANN-PICK DISEASE
BRADY, RO
KANFER, JN
MOCK, MB
FREDRICKSON, DS
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1966, 55 (02) : 366 - +
[6] BUTTERWORTH J, J INHER METAB DIS
[7] CALLAHAN JW, 1975, PEDIATR RES, V9, P914
[8] SPHINGOMYELINASES IN HUMAN TISSUES .2. ABSENCE OF A SPECIFIC ENZYME FROM LIVER AND BRAIN OF NIEMANN-PICK DISEASE, TYPE-C
CALLAHAN, JW
KHALIL, M
PHILIPPART, M
[J]. PEDIATRIC RESEARCH, 1975, 9 (12) : 908 - 913
[9] PHOSPHODIESTERASES IN HUMAN TISSUES .2. DECREASED HYDROLYSIS OF SYNTHETIC SUBSTRATE BY TISSUES FROM PATIENTS WITH NIEMANN-PICK SYNDROME
CALLAHAN, JW
LASSILA, EL
PHILIPPART, M
[J]. BIOCHEMICAL MEDICINE, 1974, 11 (03): : 262 - 274
[10] FIBROBLAST PHOSPHODIESTERASE DEFICIENCY IN NIEMANN-PICK DISEASE
FENSOM, AH
BENSON, PF
BABARIK, AW
GRANT, AR
JACOBS, L
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1977, 74 (03) : 877 - 883

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