The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

Journal of Inherited Metabolic Disease

Volumn 33, Issue 5, 2010, Pages 479-494

  Wanders, Ronald J A ^a   Ruiter, Jos P N ^a   Ijlst, Lodewijk ^a   Waterham, Hans R ^a   Houten, Sander M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYL COENZYME A ACYLTRANSFERASE; ACYL COENZYME A DEHYDROGENASE; BUTYRYL COENZYME A DEHYDROGENASE; CARNITINE ACETYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE I; CARNITINE PALMITOYLTRANSFERASE II; ELECTRON TRANSFERRING FLAVOPROTEIN; ELECTRON TRANSFERRING FLAVOPROTEIN ALPHA; ELECTRON TRANSFERRING FLAVOPROTEIN BETA; ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE; ENOYL COENZYME A HYDRATASE; LONG CHAIN ACYL COENZYME A DEHYDROGENASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; UNCLASSIFIED DRUG; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE;

BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CITRIC ACID CYCLE; ENZYME ANALYSIS; ENZYME SPECIFICITY; ENZYMOLOGY; FATTY ACID OXIDATION; FOLLOW UP; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INBORN ERROR OF METABOLISM; LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MITOCHONDRIAL MEMBRANE; NEWBORN SCREENING; NONHUMAN; OXIDATIVE PHOSPHORYLATION; RADIOMETRY; REVIEW; SPECTROPHOTOMETRY; TANDEM MASS SPECTROMETRY; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

ANIMALS; BIOLOGICAL MARKERS; ENERGY METABOLISM; FATTY ACIDS; GENETIC TESTING; GENOTYPE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; NEONATAL SCREENING; OXIDATION-REDUCTION; PHENOTYPE; TANDEM MASS SPECTROMETRY;

EID: 77957602067     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9104-8     Document Type: Review

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