FIBROBLAST PHOSPHODIESTERASE DEFICIENCY IN NIEMANN-PICK DISEASE

被引：20

作者：

FENSOM, AH ^{[1
]}

BENSON, PF ^{[1
]}

BABARIK, AW ^{[1
]}

GRANT, AR ^{[1
]}

JACOBS, L ^{[1
]}

机构：

[1] GUYS HOSP,SCH MED,PRINCE PHILLIP RES LABS,PAEDIAT RES UNIT,LONDON SE1 9RT,ENGLAND

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1977年 / 74卷 / 03期

关键词：

D O I：

10.1016/0006-291X(77)91600-X

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：877 / 883

页数：7

共 13 条

[1] METABOLISM OF SPHINGOMYELIN .2. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN NIEMANN-PICK DISEASE
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KANFER, JN
MOCK, MB
FREDRICKSON, DS
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1966, 55 (02) : 366 - +
[2] BRADY RO, 1972, SEMIN HEMATOL, V9, P273
[3] BRADY RO, 1973, LYSOSOMES STORAGE DI, P439
[4] 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
[5] 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
[6] ISOENZYMES OF SPHINGOMYELINASE AND GENETIC DEFECT IN NIEMANN-PICK DISEASE, TYPE-C
CALLAHAN, JW
KHALIL, M
GERRIE, J
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1974, 58 (02) : 384 - 390
[7] CEREBRAL DEFECT IN TAY-SACHS DISEASE AND NIEMANN-PICK DISEASE
CROCKER, AC
[J]. JOURNAL OF NEUROCHEMISTRY, 1961, 7 (01) : 69 - +
[8] FREDRICKSON DS, 1973, METABOLIC BASIS INHE, P783
[9] PRACTICAL CHROMOGENIC PROCEDURE FOR DETECTION OF HOMOZYGOTES AND HETEROZYGOUS CARRIERS OF NIEMANN-PICK DISEASE
GAL, AE
BRADY, RO
HIBBERT, SR
PENTCHEV, PG
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1975, 293 (13) : 632 - 636
[10] SIMPLE SPHINOGOMYELINASE DETERMINATION FOR NIEMANN-PICK DISEASE - DIFFERENTIAL DIAGNOSIS OF TYPES A, B AND C
HARZER, K
BENZ, HU
[J]. JOURNAL OF NEUROCHEMISTRY, 1973, 21 (04) : 999 - &

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