Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency

Journal of the Neurological Sciences

Volumn 201, Issue 1-2, 2002, Pages 33-37

  Naito, Etsuo ^a   Ito, Michinori ^a   Yokota, Ichiro ^a   Saijo, Takahiko ^a   Ogawa, Yukiko ^a   Kuroda, Yasuhiro ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

E1 subunit; Lactic acidemia; Pyruvate dehydrogenase complex deficiency; Thiamine pyrophosphate; Thiamine treatment

Indexed keywords

ALANINE; ARGININE; COCARBOXYLASE; CYSTEINE; GLYCINE; LACTIC ACID; PHENYLALANINE; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVIC ACID; THIAMINE; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; DNA SEQUENCE; DRUG EFFECT; DRUG EFFICACY; ENZYME ACTIVITY; ENZYME ASSAY; EXON; FIBROBLAST; GENE MUTATION; HUMAN; LACTIC ACIDEMIA; MALE; POINT MUTATION; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SCHOOL CHILD; SEQUENCE ANALYSIS; TREATMENT OUTCOME;

ACIDOSIS, LACTIC; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FIBROBLASTS; HUMANS; INFANT; MALE; POINT MUTATION; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; SKIN; THIAMINE;

EID: 0037106021     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(02)00187-9     Document Type: Article

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