MEVALONIC ACIDURIA - AN INBORN ERROR OF CHOLESTEROL AND NONSTEROL ISOPRENE BIOSYNTHESIS

被引：148

作者：

HOFFMAN, G

GIBSON, KM

BRANDT, IK

BADER, PI

WAPPNER, RS

SWEETMAN, L

机构：

[1] UNIV CALIF SAN DIEGO,DEPT PEDIAT M009B,LA JOLLA,CA 92093

[2] PARKVIEW HOSP,FT WAYNE,IN

[3] INDIANA UNIV,DEPT PEDIAT,BLOOMINGTON,IN 47401

[4] INDIANA UNIV,DEPT MED GENET,BLOOMINGTON,IN 47401

[5] JAMES WHITCOMB RILEY HOSP CHILDREN,INDIANAPOLIS,IN 46202

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1986年 / 314卷 / 25期

关键词：

D O I：

10.1056/NEJM198606193142504

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1610 / 1614

页数：5

共 24 条

[11] 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

[12]

GOLDSTEIN JL, 1983, METABOLIC BASIS INHE, P672

[13]

HARWOOD HJ, 1982, J LIPID RES, V23, P754

[14] STABLE ISOTOPE-DILUTION ANALYSIS OF 3-HYDROXYISOVALERIC ACID IN AMNIOTIC-FLUID - CONTRIBUTION TO THE PRENATAL-DIAGNOSIS OF INHERITED DISORDERS OF LEUCINE CATABOLISM [J].

JAKOBS, C ;

SWEETMAN, L ;

NYHAN, WL ;

PACKMAN, S .

JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (01) :15-20

[15]

KAPPAS A, 1983, METABOLIC BASIS INHE, P1301

[16] MEVALONATE SUPPLEMENTATION IN PREGNANT RATS SUPPRESSES THE TERATOGENICITY OF MEVINOLINIC ACID, AN INHIBITOR OF 3-HYDROXY-3-METHYLGLUTARYL-COENZYME-A REDUCTASE [J].

MINSKER, DH ;

MACDONALD, JS ;

ROBERTSON, RT ;

BOKELMAN, DL .

TERATOLOGY, 1983, 28 (03) :449-456

[17]

NYHAN WL, 1984, ABNORMALITIES AMINO, P307

[18]

POTTER EL, 1975, PATHOLOGY FETUS INFA, P18

[19]

STANGE EF, 1983, J BIOL CHEM, V258, P2868

[20]

SURANI MAH, 1983, J EMBRYOL EXP MORPH, V75, P205

← 1 2 3 →