HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA - POSSIBLE BIOCHEMICAL EXPLANATION OF CLINICAL HETEROGENEITY

被引:54
作者
BRESLOW, JL
SPAULDING, DR
LUX, SE
LEVY, RI
LEES, RS
机构
[1] MIT,ARTERIOSCLEROSIS CTR,BOSTON,MA
[2] HARVARD UNIV,MED SCH,DEPT PEDIAT,CAMBRIDGE,MA
[3] NHLI,MOLEC DIS BRANCH,BETHESDA,MD
[4] CHILDRENS HOSP,MED CTR,300 LONGWOOD AVE,BOSTON,MA 02115
关键词
D O I
10.1056/NEJM197510302931804
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:900 / 903
页数:4
相关论文
共 21 条
[1]  
AHRENS EH, 1974, LANCET, V2, P449
[2]   HOMOZYGOUS TYPE 2 HYPERLIPOPROTEINEMIA TREATMENT - PARTIAL ILEAL BYPASS IN 2 CHILDREN [J].
BALFOUR, JF ;
KIM, R .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1974, 227 (10) :1145-1151
[3]   REGULATION OF 3-HYDROXY-3-METHYLGLUTARYL COENZYME A REDUCTASE-ACTIVITY IN HUMAN FIBROBLASTS BY LIPOPROTEINS [J].
BROWN, MS ;
DANA, SE ;
GOLDSTEIN, JL .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1973, 70 (07) :2162-2166
[4]   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
[5]  
BUCHWALD H, 1974, CIRCULATION S1, V49, P1
[6]  
FREDRICKSON DS, 1972, METABOLIC BASIS INHE, P545
[7]  
FREUND JE, 1967, MODERN ELEMENTARY ST
[8]   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
[9]  
GOLDSTEIN JL, 1974, AM J HUM GENET, V26, P199
[10]   CHOLESTYRAMINE RESIN THERAPY FOR HYPERCHOLESTERMIA - CLINICAL AND METABOLIC STUDIES [J].
HASHIM, SA ;
VANITALLIE, TB .
JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1965, 192 (04) :289-+