A DEFECT IN CHOLESTEROL ESTERIFICATION IN NIEMANN-PICK DISEASE (TYPE-C) PATIENTS

被引：339

作者：

PENTCHEV, PG

COMLY, ME

KRUTH, HS

VANIER, MT

WENGER, DA

PATEL, S

BRADY, RO

机构：

[1] NHLBI,EXPTL ATHEROSCLEROSIS LAB,BETHESDA,MD 20892

[2] FAC MED LYON SUD OULLINS,INSERM,U189,BIOCHIM GEN LAB,LYON,FRANCE

[3] UNIV COLORADO,HLTH SCI CTR,DEPT PEDIAT,DENVER,CO 80262

[4] VET ADM MED CTR,NEUROL SERV,NEWINGTON,CT 06111

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1985年 / 82卷 / 23期

关键词：

D O I：

10.1073/pnas.82.23.8247

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：8247 / 8251

页数：5

共 16 条

[1] DEGRADATION OF CATIONIZED LOW-DENSITY LIPOPROTEIN AND REGULATION OF CHOLESTEROL-METABOLISM IN HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA FIBROBLASTS
BASU, SK
GOLDSTEIN, JL
ANDERSON, RGW
BROWN, MS
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[2] BORNIG H, 1974, ACTA HISTOCHEM, V50, P110
[3] Brady R. O., 1983, METABOLIC BASIS INHE, P831
[4] METABOLISM OF SPHINGOMYELIN .2. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN NIEMANN-PICK DISEASE
BRADY, RO
KANFER, JN
MOCK, MB
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[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1966, 55 (02) : 366 - +
[5] BROWN MS, 1974, J BIOL CHEM, V249, P789
[6] ROLE OF LOW-DENSITY LIPOPROTEIN RECEPTOR IN REGULATING CONTENT OF FREE AND ESTERIFIED CHOLESTEROL IN HUMAN FIBROBLASTS
BROWN, MS
FAUST, JR
GOLDSTEIN, JL
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1975, 55 (04) : 783 - 793
[7] FOLCH J, 1957, J BIOL CHEM, V226, P497
[8] 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
[9] LOW-DENSITY LIPOPROTEIN PATHWAY AND ITS RELATION TO ATHEROSCLEROSIS
GOLDSTEIN, JL
BROWN, MS
[J]. ANNUAL REVIEW OF BIOCHEMISTRY, 1977, 46 : 897 - 930
[10] DISTRIBUTION AND CHEMICAL COMPOSITION OF ULTRACENTRIFUGALLY SEPARATED LIPOPROTEINS IN HUMAN SERUM
HAVEL, RJ
EDER, HA
BRAGDON, JH
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1955, 34 (09) : 1345 - 1353

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