A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene

Annals of Neurology

Volumn 53, Issue 2, 2003, Pages 273-277

  Dey, Runu ^a   Mine, Manuele ^b   Desguerre, Isabelle ^c   Slama, Abdelhamid ^b   Van Den Berghe, Loic ^a   Brivet, Michèle ^b   Aral, Bernard ^a   Marsac, Cécile ^a,d  

^a CNRS   (France)

^b BICÊTRE HOSPITAL   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Faculté de Médecine Necker   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PYRUVATE DEHYDROGENASE;

ARTICLE; BASAL GANGLION; BRAIN DISEASE; CASE REPORT; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; LACTIC ACIDOSIS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SUBEPENDYMOMA;

ACIDOSIS, LACTIC; FEMALE; GENE DELETION; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX;

EID: 0037310675     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10478     Document Type: Article

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