Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 79, Issue 7, 2008, Pages 846-847

  Sedel, F ^a,e   Challe, G ^a   Mayer, J M ^a   Boutron, A ^a,d   Fontaine, B ^a,b   Saudubray, J M ^c   Brivet, M ^a,d  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d BICÊTRE HOSPITAL   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

THIAMINE;

ADULT; CASE REPORT; ELECTROMYOGRAPHY; EYE EXAMINATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LETTER; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE DISEASE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; TREATMENT OUTCOME;

ADULT; AGE FACTORS; HUMANS; MALE; OPTIC NERVE DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; THIAMINE; VITAMIN B COMPLEX;

EID: 46249119694     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2007.136630     Document Type: Letter

References (6)

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6. Sedel F, Lyon-Caen O, Saudubray JM. Inborn errors of metabolism in adult neurology - a clinical approach focused on treatable diseases. Nat Clin Pract Neurol 2007;3:279-90.