INHERITED DISORDER OF ISOLEUCINE CATABOLISM CAUSING ACCUMULATION OF ALPHA-METHYLACETOACETATE AND ALPHA-METHYL-BETA-HYDROXYBUTYRATE, AND INTERMITTENT METABOLIC-ACIDOSIS

被引：88

作者：

DAUM, RS

SCRIVER, CR

MAMER, OA

DELVIN, E

LAMM, P

GOLDMAN, H

机构：

[1] MCGILL UNIV,FAC SCI,DEPT BIOL,MONTREAL,QUEBEC,CANADA

[2] MCGILL UNIV,FAC MED,DEPT PEDIAT,MONTREAL,QUEBEC,CANADA

[3] MCGILL UNIV,FAC MED,DEPT MED,MONTREAL,QUEBEC,CANADA

[4] MCGILL UNIV,MONTREAL CHILDRENS HOSP,RES INST,LAB BIOCHEM GENET,MONTREAL 108,QUEBEC,CANADA

来源：

PEDIATRIC RESEARCH | 1973年 / 7卷 / 03期

关键词：

D O I：

10.1203/00006450-197303000-00007

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：149 / 160

页数：12

共 15 条

[1]

DAUM RS, 1971, LANCET, V2, P1289

[2] ACETOACETYL-COENZYME-A THIOLASE IN BRAIN, LIVER, AND KIDNEY DURING MATURATION OF RAT [J].

DIERKSVENTLING, C ;

CONE, AL .

SCIENCE, 1971, 172 (3981) :380-+

[3]

FOMON SJ, 1967, INFANT NUTRITION

[4] IDENTIFICATION OF TRIGLYLGLYCINE IN URINE OF A CHILD WITH BETA-METHYLCROTONYLGLYCINURIA [J].

GOMPERTZ, D ;

DRAFFAN, GH .

CLINICA CHIMICA ACTA, 1972, 37 (NMAR) :405-&

[5]

GOMPERTZ D, 1971, LANCET, V2, P22

[6]

HILLMAN RE, 1972, PEDIATR RES, V6, P394

[7]

Lehninger AL, 1970, BIOCHEMISTRY

[8]

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

[9] IDENTIFICATION OF URINARY ACIDS BY COUPLED GAS CHROMATOGRAPHY-MASS SPECTROMETRY [J].

MAMER, OA ;

CRAWHALL, JC ;

SANTJOA, S .

CLINICA CHIMICA ACTA, 1971, 32 (02) :171-&

[10]

MCKUSICK VA, 1972, LANCET, V1, P993

← 1 2 →