THE ASSOCIATION OF LDL RECEPTOR ACTIVITY, LDL CHOLESTEROL LEVEL, AND CLINICAL COURSE IN HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

被引：71

作者：

SPRECHER, DL ^{[1
]}

HOEG, JM ^{[1
]}

SCHAEFER, EJ ^{[1
]}

ZECH, LA ^{[1
]}

GREGG, RE ^{[1
]}

LAKATOS, E ^{[1
]}

BREWER, HB ^{[1
]}

机构：

[1] NHLBI,MOLEC DIS BRANCH,BETHESDA,MD 20205

来源：

METABOLISM-CLINICAL AND EXPERIMENTAL | 1985年 / 34卷 / 03期

关键词：

D O I：

10.1016/0026-0495(85)90015-0

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：294 / 299

页数：6

共 25 条

[1] MUTATION THAT IMPAIRS ABILITY OF LIPOPROTEIN RECEPTORS TO LOCALIZE IN COATED PITS ON CELL-SURFACE OF HUMAN FIBROBLASTS [J].

ANDERSON, RGW ;

GOLDSTEIN, JL ;

BROWN, MS .

NATURE, 1977, 270 (5639) :695-699

[2]

AVIGAN J, 1975, J LIPID RES, V16, P151

[3] HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA - POSSIBLE BIOCHEMICAL EXPLANATION OF CLINICAL HETEROGENEITY [J].

BRESLOW, JL ;

SPAULDING, DR ;

LUX, SE ;

LEVY, RI ;

LEES, RS .

NEW ENGLAND JOURNAL OF MEDICINE, 1975, 293 (18) :900-903

[4] LOWERING PLASMA-CHOLESTEROL BY RAISING LDL RECEPTORS [J].

BROWN, MS ;

GOLDSTEIN, JL .

NEW ENGLAND JOURNAL OF MEDICINE, 1981, 305 (09) :515-517

[5] FAMILIAL HYPERCHOLESTEROLEMIA - DEFECTIVE BINDING OF LIPOPROTEINS TO CULTURED FIBROBLASTS ASSOCIATED WITH IMPAIRED REGULATION OF 3-HYDROXY-3-METHYLGLUTARYL COENZYME A REDUCTASE-ACTIVITY [J].

BROWN, MS ;

GOLDSTEIN, JL .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1974, 71 (03) :788-792

[6]

COX DR, 1972, J R STAT SOC B, V34, P187

[7]

FREDRICKSON DS, 1972, METABOLIC BASIS INHE, P545

[8] GENETIC-HETEROGENEITY IN FAMILIAL HYPERCHOLESTEROLEMIA - EVIDENCE FOR 2 DIFFERENT MUTATIONS AFFECTING FUNCTIONS OF LOW-DENSITY LIPOPROTEIN RECEPTOR [J].

GOLDSTEIN, JL ;

DANA, SE ;

BRUNSCHEDE, GY ;

BROWN, MS .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1975, 72 (03) :1092-1096

[9] FAMILIAL HYPERCHOLESTEROLEMIA - IDENTIFICATION OF A DEFECT IN REGULATION OF 3-HYDROXY-3-METHYLGLUTARYL COENZYME-A REDUCTASE-ACTIVITY ASSOCIATED WITH OVERPRODUCTION OF CHOLESTEROL [J].

GOLDSTEIN, JL ;

BROWN, MS .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1973, 70 (10) :2804-2808

[10] THE LDL RECEPTOR DEFECT IN FAMILIAL HYPERCHOLESTEROLEMIA - IMPLICATIONS FOR PATHOGENESIS AND THERAPY [J].

GOLDSTEIN, JL ;

BROWN, MS .

MEDICAL CLINICS OF NORTH AMERICA, 1982, 66 (02) :335-362

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