Genetic defects in fatty acid β-oxidation and acyl-CoA dehydrogenases: Molecular pathogenesis and genotype-phenotype relationships

European Journal of Biochemistry

Volumn 271, Issue 3, 2004, Pages 470-482

  Gregersen, Niels ^a   Bross, Peter ^a   Andresen, Brage S ^a,b  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

Author keywords

acyl CoA dehydrogenase; Fatty acid oxidation; Genotype phenotype; Intracellular proteases; MCAD; Molecular chaperones; Mutation type; Protein quality control system; SCAD; VLCAD

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ESCHERICHIA COLI PROTEIN; FATTY ACID;

ACYL COENZYME A DEHYDROGENASE DEFICIENCY; BIOGENESIS; CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY; CATALYSIS; CELL METABOLISM; DATA BASE; DEATH; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; ESCHERICHIA COLI; FATTY ACID OXIDATION; GENE MUTATION; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; GENOTYPE; HEART ARRHYTHMIA; HEART FUNCTION; HEPATIC COMA; HEREDITY; HUMAN; HYPOGLYCEMIA; METHODOLOGY; MISSENSE MUTATION; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; NULL ALLELE; ONSET AGE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN METABOLISM; SHORT SURVEY; SYMPTOMATOLOGY;

ACYL-COA DEHYDROGENASES; FATTY ACIDS; GENOTYPE; LIPID METABOLISM, INBORN ERRORS; OXIDATION-REDUCTION; PHENOTYPE;

ESCHERICHIA COLI;

EID: 0842330592     PISSN: 00142956     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1432-1033.2003.03949.x     Document Type: Short Survey

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