3-HYDROXY-3-METHYLGLUTARIC ACIDURIA - DEFICIENCY OF 3-HYDROXY-3-METHYLGLUTARYL COENZYME A LYASE

被引：35

作者：

WYSOCKI, SJ ^{[1
]}

HAHNEL, R ^{[1
]}

机构：

[1] UNIV WESTERN AUSTRALIA,KING EDWARD MEM HOSP,DEPT OBSTET & GYNAECOL,SUBIACO 6008,W AUSTRALIA,AUSTRALIA

来源：

CLINICA CHIMICA ACTA | 1976年 / 71卷 / 02期

关键词：

D O I：

10.1016/0009-8981(76)90552-0

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

引用

页码：349 / 351

页数：3

共 9 条

[1]

CLINKENBEARD KD, 1975, J BIOL CHEM, V250, P3108

[2]

COON MJ, 1955, AMINO ACID METABOLIS, P431

[3]

FAULL K, 1976, NEW ENGL J MED, V294, P1013

[4]

GOLDFARB S, 1971, J LIPID RES, V12, P512

[5] INTRAUTERINE DIAGNOSIS - COMPARATIVE ENZYMOLOGY OF CELLS CULTIVATED FROM MATERNAL SKIN, FETAL SKIN, AND AMINIOTIC FLUID CELLS [J].

KABACK, MM ;

LEONARD, CO ;

PARMLEY, TH .

PEDIATRIC RESEARCH, 1971, 5 (08) :366-&

[6]

LOWRY OH, 1951, J BIOL CHEM, V193, P265

[7]

LYNEN F, 1958, BIOCHEM Z, V330, P269

[8] TAY-SACHS DISEASE - DETECTION OF HETEROZYGOTES AND HOMOZYGOTES BY SERUM HEXOSAMINIDASE ASSAY [J].

OBRIEN, JS ;

OKADA, S ;

CHEN, A ;

FILLERUP, DL .

NEW ENGLAND JOURNAL OF MEDICINE, 1970, 283 (01) :15-&

[9] 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA, COMBINED WITH 3-METHYLGLUTACONIC ACIDURIA [J].

WYSOCKI, SJ ;

WILKINSON, SP ;

HAHNEL, R ;

WONG, CYB ;

PANEGYRES, PK .

CLINICA CHIMICA ACTA, 1976, 70 (03) :399-406

← 1 →