Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Haliloglu, G ^a   Temucin, C M ^a   Oguz, K K ^a   Celiker, A ^a   Coskun, T ^a   Sass, J O ^b   Fischer, J ^c   Topcu, M ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY OF FREIBURG   (Germany)

^c CENTRE NATIONAL DE GÉNOTYPAGE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL DEHYDROGENASE; D2HGDH PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; BRAIN; CASE REPORT; ELECTROPHYSIOLOGY; ENZYMOLOGY; GENETICS; HOMOZYGOTE; HUMAN; MALE; METABOLIC ENCEPHALOPATHY; MISSENSE MUTATION; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PATHOPHYSIOLOGY; PERIPHERAL NEUROPATHY; PHENOTYPE; RECESSIVE GENE;

ADOLESCENT; ALCOHOL OXIDOREDUCTASES; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; ELECTROPHYSIOLOGICAL PHENOMENA; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; NEURAL CONDUCTION; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE;

EID: 84881072466     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-0933-2     Document Type: Article

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