Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene

Clinical Chemistry

Volumn 52, Issue 3, 2006, Pages 530-534

  Das, Anibh M ^a   Illsinger, Sabine ^a   Lücke, Thomas ^a   Hartmann, Hans ^a   Ruiter, Jos P N ^c   Steuerwald, Ulrike ^b   Waterham, Hans R ^c   Duran, Marinus ^c   Wanders, Ronald J A ^c  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b Screening Laboratory Hannover   (Germany)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; 4 HYDROXYACYL COENZYME A DEHYDROGENASE ALPHA; 4 HYDROXYACYL COENZYME A DEHYDROGENASE BETA; ACETYL COENZYME A ACYLTRANSFERASE; ACYLCARNITINE; CARBON 13; LONG CHAIN FATTY ACID; PALMITIC ACID; UNCLASSIFIED DRUG;

ACUTE HEART FAILURE; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; ELECTROSPRAY MASS SPECTROMETRY; ENZYME DEFICIENCY; ENZYME SUBUNIT; FIBROBLAST CULTURE; GENE MUTATION; HUMAN; HUMAN CELL; ISOTOPE LABELING; LACTIC ACIDOSIS; LUNG EDEMA; MALE; MITOCHONDRION; MONOLAYER CULTURE; NEWBORN; NEWBORN MORTALITY; NEWBORN SCREENING; TANDEM MASS SPECTROMETRY; WESTERN BLOTTING;

ACETYL-COA C-ACYLTRANSFERASE; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; MALE; MULTIENZYME COMPLEXES; MUTATION; PROTEIN SUBUNITS;

EID: 33644519620     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.062000     Document Type: Article

References (22)

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