INHERITED DISORDERS OF 3-METHYLCROTONYL COA CARBOXYLATION

被引：28

作者：

LEONARD, JV

SEAKINS, JWT

BARTLETT, K

HYDE, J

WILSON, J

CLAYTON, B

机构：

[1] INST CHILD HLTH,DEPT CHEM PATHOL,LONDON WC1N 1EH,ENGLAND

[2] HOSP SICK CHILDREN,DEPT NEUROL,LONDON WC1N 3JH,ENGLAND

[3] ROYAL VICTORIA INFIRM,DEPT CLIN BIOCHEM,NEWCASTLE TYNE NE1 4LP,TYNE & WEAR,ENGLAND

来源：

ARCHIVES OF DISEASE IN CHILDHOOD | 1981年 / 56卷 / 01期

关键词：

D O I：

10.1136/adc.56.1.53

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：53 / 59

页数：7

共 23 条

[1] COMBINED DEFECT OF 3 MITOCHONDRIAL CARBOXYLASES PRESENTING AS BIOTIN-RESPONSIVE 3-METHYLCROTONYL GLYCINURIA AND 3-HYDROXYISOVALERIC ACIDURIA [J].

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[3]

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[4]

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[6] OCCURRENCE AND IDENTIFICATION OF OMICRON-HYDROXYHIPPURIC ACID (SALICYLURIC ACID) IN URINE OF SICK CHILDREN [J].

FINNIE, MDA ;

ERSSER, RS ;

SEAKINS, JWT ;

SNEDDEN, W .

CLINICA CHIMICA ACTA, 1976, 70 (01) :171-178

[7] MASSIVE EXCRETION OF 2-OXOGLUTARIC ACID AND 3-HYDROXYISOVALERIC ACID IN A PATIENT WITH A DEFICIENCY OF 3-METHYLCROTONYL-COA CARBOXYLASE [J].

FINNIE, MDA ;

COTTRALL, K ;

SEAKINS, JWT ;

SNEDDEN, W .

CLINICA CHIMICA ACTA, 1976, 73 (03) :513-519

[8] CHILD WITH A DEFECT IN LEUCINE METABOLISM ASSOCIATED WITH BETA-HYDROXYISOVALERIC ACIDURIA AND BETA-METHYLCROTONYLGLYCINURIA [J].

GOMPERTZ, D ;

BARTLETT, K ;

BLAIR, D ;

STERN, CMM .

ARCHIVES OF DISEASE IN CHILDHOOD, 1973, 48 (12) :975-977

[9]

GOMPERTZ D, 1971, LANCET, V2, P22

[10]

GOMPERTZ D, 1970, LANCET, V1, P1140

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