Late-onset form of β-electron transfer flavoprotein deficiency

Molecular Genetics and Metabolism

Volumn 78, Issue 4, 2003, Pages 247-249

  Curcoy, A ^a   Olsen, R K J ^b   Ribes, A ^c   Trenchs, V ^a   Vilaseca, M A ^a   Campistol, J ^a   Osorio, J H ^c,d   Andresen, B S ^b,e   Gregersen, N ^b  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c Institut de Bioquimica Clinica Barcelona   (Spain)

^d UNIVERSIDAD DE CALDAS   (Colombia)

^e AARHUS UNIVERSITY   (Denmark)

Author keywords

ETF deficiency; Glutaric aciduria type II; Hypoglycemia; Mitochondrial oxidation; Multiple acyl CoA dehydrogenation deficiency

Indexed keywords

ADIPIC ACID; ARGININE; CARBOXYLIC ACID; CARNITINE; CYSTEINE; GLUTARIC ACID; LYSINE; MALONIC ACID DERIVATIVE; MYRISTIC ACID DERIVATIVE; PALMITIC ACID DERIVATIVE; RIBOFLAVIN; SEBACIC ACID; SUBERIC ACID; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BETA ELECTRON TRANSFER FLAVOPROTEIN DEFICIENCY; BLOOD LEVEL; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DATA ANALYSIS; ELECTRON TRANSPORT; EXON; FEMALE; FIBROBLAST; GENE; GENE DELETION; GENETIC ANALYSIS; GLUTARIC ACIDURIA TYPE II; HUMAN; LABORATORY TEST; MISSENSE MUTATION; MOLECULAR GENETICS; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; OXIDATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; URINALYSIS;

EID: 0037388469     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00024-6     Document Type: Article

References (15)

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