Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene

Brain and Development

Volumn 34, Issue 2, 2012, Pages 87-91

  Koga, Yasutoshi ^a   Povalko, Nataliya ^a   Katayama, Koujyu ^a   Kakimoto, Noriko ^a   Matsuishi, Toyojiro ^a   Naito, Etsuo ^b   Tanaka, Masashi ^c  

^a Kurume University Graduate School of Medicine Kurume University Graduate School of Medicine Graduate School Biostatistics   (Japan)

^b UNIVERSITY OF TOKUSHIMA   (Japan)

^c TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

Author keywords

Lactic acidosis; Leigh syndrome; PDH E1 mutation; Pyruvate; Therapy

Indexed keywords

ALANINE; CARBAMAZEPINE; CLOBAZAM; DICHLOROACETIC ACID; PHENOBARBITAL; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE SODIUM; VALPROIC ACID; ZONISAMIDE;

AMINO ACID ANALYSIS; ARTICLE; BRAIN ATROPHY; CASE REPORT; CHILD; CORPUS CALLOSUM AGENESIS; ELECTROENCEPHALOGRAM; ENZYME ASSAY; FACIAL EXPRESSION; GENE MUTATION; HUMAN; INFANT DISEASE; INFANTILE HYPOTONIA; LACTIC ACIDOSIS; LEIGH DISEASE; LENNOX GASTAUT SYNDROME; MALE; MYELINATION; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION;

ALANINE; CELLS, CULTURED; CHILD, PRESCHOOL; DICHLOROACETIC ACID; ELECTROENCEPHALOGRAPHY; FIBROBLASTS; HUMANS; LACTIC ACID; LEIGH DISEASE; MALE; MUTATION; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVIC ACID; STATISTICS, NONPARAMETRIC;

EID: 84855573842     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.03.003     Document Type: Article

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