Lipoic acid biosynthesis defects

Journal of Inherited Metabolic Disease

Volumn 37, Issue 4, 2014, Pages 553-563

  Mayr, Johannes A ^a   Feichtinger, René G ^a   Tort, Frederic ^b   Ribes, Antonia ^b   Sperl, Wolfgang ^a  

^a PARACELSUS MEDICAL UNIVERSITY   (Austria)

^b HOSPITAL CLÍNIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOACID DEHYDROGENASE; DIHYDROLIPOAMIDE DEHYDROGENASE; IRON; OCTANOIC ACID; SULFUR; THIOCTIC ACID; 2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); ACYLTRANSFERASE; CARRIER PROTEIN; GLYCINE CLEAVAGE SYSTEM; LIPOIC ACID SYNTHASE; LIPOYLTRANSFERASE I; LIPOYLTRANSFERASE II; MULTIENZYME COMPLEX; OXIDOREDUCTASE; SULFURTRANSFERASE; TRANSFERASE;

BRAIN DISEASE; CARDIOMYOPATHY; CONFERENCE PAPER; CONVULSION; DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; ENERGY METABOLISM; ENZYME DEFECT; ENZYME DEFICIENCY; ENZYME SYNTHESIS; FATTY ACID SYNTHESIS; GENE MUTATION; HUMAN; HYPERGLYCINEMIA; LIPOIC ACID DEFECT; LIPOIC ACID SYNTHETASE DEFECT; LIPOYL TRANSFERASE 1 DEFICIENCY; MALONYL COA SYNTHETASE DEFICIENCY; MITOCHONDRION; PHENOTYPE; ANIMAL; BIOSYNTHESIS; DEFICIENCY; DISEASE MODEL; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; ENZYMOLOGY; GENETICS;

3-METHYL-2-OXOBUTANOATE DEHYDROGENASE (LIPOAMIDE); ACYLTRANSFERASES; AMINO ACID OXIDOREDUCTASES; ANIMALS; CARRIER PROTEINS; DIHYDROLIPOAMIDE DEHYDROGENASE; DISEASE MODELS, ANIMAL; HUMANS; LIPID METABOLISM, INBORN ERRORS; MULTIENZYME COMPLEXES; SULFURTRANSFERASES; THIOCTIC ACID; TRANSFERASES;

EID: 84904093112     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9705-8     Document Type: Conference Paper

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