DIAGNOSIS OF MEDIUM CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY IN AN ASYMPTOMATIC NEONATE

被引：4

作者：

WALKER, V

MILLS, GA

WEAVIND, GP

HALL, MA

JOHNSTON, PGB

机构：

[1] UNIV SOUTHAMPTON,DEPT CLIN BIOCHEM,SOUTHAMPTON SO9 5NH,HANTS,ENGLAND

[2] SOUTHAMPTON GEN HOSP,DEPT CHILD HLTH,SOUTHAMPTON SO9 4XY,HANTS,ENGLAND

[3] DORSET CTY HOSP,DEPT PAEDIAT,DORCHESTER,ENGLAND

来源：

ANNALS OF CLINICAL BIOCHEMISTRY | 1990年 / 27卷

基金：

英国惠康基金;

关键词：

3-phenylpropionic acid and L-carnitine loading tests; fast atom bombardment-mass spectrometry; gas chromatography-mass spectrometry; medium chain dicarboxylic acids;

D O I：

10.1177/000456329002700314

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：

[No abstract available]

引用

页码：267 / 269

页数：3

共 6 条

[1]

BENNETT MJ, 1986, LANCET, V2, P1470

[2] MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - DIAGNOSIS BY STABLE-ISOTOPE DILUTION MEASUREMENT OF URINARY NORMAL-HEXANOYLGLYCINE AND 3-PHENYLPROPIONYLGLYCINE [J].

RINALDO, P ;

OSHEA, JJ ;

COATES, PM ;

HALE, DE ;

STANLEY, CA ;

TANAKA, K .

NEW ENGLAND JOURNAL OF MEDICINE, 1988, 319 (20) :1308-1313

[3] DIAGNOSTIC AND THERAPEUTIC IMPLICATIONS OF MEDIUM-CHAIN ACYLCARNITINES IN THE MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY [J].

ROE, CR ;

MILLINGTON, DS ;

MALTBY, DA ;

BOHAN, TP ;

KAHLER, SG ;

CHALMERS, RA .

PEDIATRIC RESEARCH, 1985, 19 (05) :459-466

[4] THE USE OF PHENYLPROPIONIC ACID AS A LOADING TEST FOR MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY [J].

SEAKINS, JWT ;

RUMSBY, G .

JOURNAL OF INHERITED METABOLIC DISEASE, 1988, 11 :221-224

[5] THE INBORN-ERRORS OF MITOCHONDRIAL FATTY-ACID OXIDATION [J].

VIANEYLIAUD, C ;

DIVRY, P ;

GREGERSEN, N ;

MATHIEU, M .

JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 :159-198

[6]

WALKER V, 1989, CLIN CHEM, V37, P1460

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