Pyruvate dehydrogenase complex deficiency: Four neurological phenotypes with differing pathogenesis

Developmental Medicine and Child Neurology

Volumn 52, Issue 2, 2010, Pages

  Barnerias, Christine ^a   Saudubray, Jean Marie ^a   Touati, Guy ^a   De Lonlay, Pascale ^a   Dulac, Olivier ^a   Ponsot, Gerard ^b   Marsac, Cécile ^a   Brivet, Michèle ^c   Desguerre, Isabelle ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c BICÊTRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DICHLOROACETIC ACID; PROTEIN PDHA1; PYRUVATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE COMPLEX; STEROID; THIAMINE; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN;

ABSENCE OF SIDE EFFECTS; ARTICLE; ATAXIA; BRAIN DEVELOPMENT; BRAIN DISEASE; CHILD; CLINICAL ARTICLE; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; EPILEPSY; EXON; EXTRAPYRAMIDAL SYNDROME; FEMALE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; INFANTILE SPASM; INTRAUTERINE GROWTH RETARDATION; KETOGENIC DIET; LACTIC ACIDOSIS; LEIGH DISEASE; MALE; MICROCEPHALY; NERVE CONDUCTION; NEUROPATHY; PAROXYSMAL DYSTONIA; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RELAPSE; SURVIVAL TIME;

ADOLESCENT; BRAIN; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LONGITUDINAL STUDIES; MAGNETIC RESONANCE IMAGING; MALE; MOTOR SKILLS DISORDERS; MUTATION; NERVOUS SYSTEM DISEASES; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; RETROSPECTIVE STUDIES; THIAMINE; VITAMIN B COMPLEX;

EID: 75349092696     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2009.03541.x     Document Type: Article

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