HOLOCARBOXYLASE SYNTHETASE DEFICIENCY - A BIOTIN-RESPONSIVE ORGANIC ACIDEMIA

被引：42

作者：

ROTH, KS

YANG, W

FOREMAN, JW

ROTHMAN, R

SEGAL, S

机构：

[1] UNIV PENN, SCH MED, DEPT PEDIAT, PHILADELPHIA, PA 19174 USA

[2] UNIV PENN, SCH MED, DEPT MED, PHILADELPHIA, PA 19174 USA

来源：

JOURNAL OF PEDIATRICS | 1980年 / 96卷 / 05期

关键词：

D O I：

10.1016/S0022-3476(80)80554-3

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：845 / 849

页数：5

共 19 条

[1] ORGANIC ACIDURIA IN HYPOXIC PREMATURE NEWBORNS SIMULATING AN INBORN ERROR OF METABOLISM [J].

BAKKEREN, JAJM ;

SENGERS, RCA ;

TRIJBELS, JMF ;

ENGELS, PHAT .

EUROPEAN JOURNAL OF PEDIATRICS, 1977, 127 (01) :41-47

[2] INACTIVATION OF PYRUVATE-DEHYDROGENASE BY FATTY-ACID IN ISOLATED RAT-LIVER MITOCHONDRIA [J].

BATENBURG, JJ ;

OLSON, MS .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1975, 66 (02) :533-540

[3]

CHARLES BM, 1979, LANCET, V2, P118

[4] EVALUATION OF CONTINUOUS SOLVENT-EXTRACTION OF ORGANIC-ACIDS FROM BIOLOGICAL-FLUIDS [J].

COHN, RM ;

UPDEGROVE, S ;

YANDRASITZ, JR ;

ROTHMAN, R ;

TOMER, K .

CLINICAL BIOCHEMISTRY, 1978, 11 (03) :126-130

[5]

COWAN MJ, 1979, LANCET, V2, P115

[6]

ELDJARN L, 1970, LANCET, V2, P521

[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]

GARLAND PB, 1964, BIOCHEM J, V91, pC6

[9] 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

[10]

GOMPERTZ D, 1971, LANCET, V2, P22

← 1 2 →