Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex

Journal of Inherited Metabolic Disease

Volumn 27, Issue 4, 2004, Pages 477-485

  Ramadan, D G ^a   Head, R A ^b   Al Tawari, A ^a   Habeeb, Y ^c   Zaki, M ^d   Al Ruqum, F ^a   Besley, G T N ^e   Wraith, J E ^e   Brown, R M ^b   Brown, Gary K ^b  

^a AL SABAH HOSPITAL   (Kuwait)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c Mubarak Hospital   (Kuwait)

^d FARWANIYA HOSPITAL   (Kuwait)

^e ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; BICARBONATE; BINDING PROTEIN; CARNITINE; GLUTAMINE; PROTEIN SUBUNIT; PROTEIN X; PYRUVATE DEHYDROGENASE COMPLEX; THIAMINE; TRYPTOPHAN;

ARTICLE; CODON; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAMILY; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; HOMOZYGOSITY; HUMAN; IMMUNOREACTIVITY; KUWAIT; LACTIC ACIDOSIS; MALE; NONSENSE MUTATION; PRESCHOOL CHILD; PROTEIN DEFICIENCY; SIBLING;

ACIDOSIS, LACTIC; BASE SEQUENCE; CELLS, CULTURED; CODON; CODON, NONSENSE; CONSANGUINITY; DNA, COMPLEMENTARY; FEMALE; FIBROBLASTS; GLUTAMINE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; KUWAIT; MAGNETIC RESONANCE IMAGING; PEPTIDES; PYRUVATE DEHYDROGENASE COMPLEX; SYRIA; TRYPTOPHAN;

EID: 4344602726     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000037336.91549.44     Document Type: Article

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