Déficit de piruvato deshidrogenasa y malformaciones cerebrales

Revista de Neurologia

Volumn 24, Issue 134, 1996, Pages 1272-1275

  Eiris J ^a  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

Author keywords

Cerebral dysgenesis; Hyperlacticacidaemia; PDH E1 gene; Piruvate dehydrogenase (PDH) deficiency

Indexed keywords

LACTIC ACID; PYRUVATE DEHYDROGENASE COMPLEX;

ARTICLE; BRAIN; CASE REPORT; CEREBROSPINAL FLUID; CONGENITAL MALFORMATION; EXON; FEMALE; FIBROBLAST; GENETICS; HUMAN; INFANT; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY;

BRAIN; CHILD, PRESCHOOL; EXONS; FEMALE; FIBROBLASTS; HUMANS; INFANT; LACTIC ACID; MAGNETIC RESONANCE IMAGING; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE;

EID: 0030254466     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (2)

1. Brown GK, Otero LJ, LeGris M, et al. Piruvate dehydrogenase deficiency. J Med Genet 1994; 31: 875-879.
2. Fujii T, van Coster RN, Old SE, et al. Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity. Ann Neurol 1994; 36: 83-89.