2-Ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: Application to diagnosis and implications for the R-pathway of isoleucine oxidation

Clinical Chemistry

Volumn 51, Issue 3, 2005, Pages 610-617

  Korman, Stanley H ^a   Andresen, Brage S ^b,c   Zeharia, Avraham ^d   Gutman, Alisa ^a   Boneh, Avihu ^e   Pitt, James J ^e  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c AARHUS UNIVERSITY   (Denmark)

^d TEL AVIV UNIVERSITY   (Israel)

^e MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

2 ETHYLHYDRACRYLIC ACID; 2 METHYLBUTYRYLGLYCINE; ACYLCARNITINE; BUTYRYL COENZYME A DEHYDROGENASE; GLYCINE DERIVATIVE; HYDRACRYLIC ACID DERIVATIVE; ISOLEUCINE; UNCLASSIFIED DRUG;

ACIDURIA; AMINO ACID ANALYSIS; AMINO ACID METABOLISM; AMINO ACID URINE LEVEL; ARTICLE; CONTROLLED STUDY; DEHYDROGENATION; ELECTROSPRAY MASS SPECTROMETRY; ENZYME DEFICIENCY; GAS CHROMATOGRAPHY; GENE MUTATION; GENE SEQUENCE; HUMAN; MASS SPECTROMETRY; OXIDATION; PHENOTYPE; URINALYSIS;

BIOLOGICAL MARKERS; BUTYRATES; BUTYRYL-COA DEHYDROGENASE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GLYCINE; HUMANS; INFANT, NEWBORN; ISOLEUCINE; MUTATION; OXIDATION-REDUCTION; STEREOISOMERISM; VALERATES;

EID: 14544272325     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2004.043265     Document Type: Article

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