FATAL CARDIOMYOPATHY ASSOCIATED WITH 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY

被引：33

作者：

GIBSON, KM

CASSIDY, SB

SEAVER, LH

WANDERS, RJA

KENNAWAY, NG

MITCHELL, GA

SPARK, RP

机构：

[1] BAYLOR UNIV,MED CTR,KIMBERLY H COURTWRIGHT & JOSEPH W SUMMERS METAB D,DALLAS,TX

[2] UNIV ARIZONA,COLL MED,HLTH SCI CTR,DEPT PEDIAT,TUCSON,AZ

[3] UNIV HOSP AMSTERDAM,ACAD MED CTR,DEPT PEDIAT,AMSTERDAM,NETHERLANDS

[4] OREGON HLTH SCI UNIV,DEPT MOLEC & MED GENET,PORTLAND,OR 97201

[5] HOP ST JUSTINE,DEPT PEDIAT & BIOCHEM,MONTREAL H3T 1C5,PQ,CANADA

[6] HOP ST JUSTINE,MED GENET SERV,MONTREAL H3T 1C5,PQ,CANADA

[7] UNIV ARIZONA,COLL MED,CTR HLTH SCI,DEPT PATHOL,TUCSON,AZ

[8] TUCSON MED CTR,DEPT PATHOL,TUCSON,AZ

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1994年 / 17卷 / 03期

关键词：

D O I：

10.1007/BF00711810

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：291 / 294

页数：4

共 5 条

[1] 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY - REPORT OF 5 NEW PATIENTS [J].

GIBSON, KM ;

BREUER, J ;

KAISER, K ;

NYHAN, WL ;

MCCOY, EE ;

FERREIRA, P ;

GREENE, CL ;

BLITZER, MG ;

SHAPIRA, E ;

REVERTE, F ;

CONDE, C ;

BAGNELL, P ;

COLE, DEC .

JOURNAL OF INHERITED METABOLIC DISEASE, 1988, 11 (01) :76-87

[2]

GIBSON KM, 1990, CLIN CHEM, V36, P297

[3]

Sweetman L, 1991, TECHNIQUES DIAGNOSTI, P143

[4] 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE IN HUMAN-SKIN FIBROBLASTS - STUDY OF ITS PROPERTIES AND DEFICIENT ACTIVITY IN 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA PATIENTS USING A SIMPLE SPECTROPHOTOMETRIC METHOD [J].

WANDERS, RJA ;

SCHUTGENS, RBH ;

ZOETERS, PHM .

CLINICA CHIMICA ACTA, 1988, 171 (01) :95-102

[5] BIOCHEMICAL-DIAGNOSIS OF GENETIC-DISEASES [J].

WAPPNER, RS .

PEDIATRIC ANNALS, 1993, 22 (05) :282-&

← 1 →