Pyruvate dehydrogenase E3 binding protein (protein X) deficiency

Developmental Medicine and Child Neurology

Volumn 48, Issue 9, 2006, Pages 756-760

  Brown, R M ^a   Head, R A ^a   Morris, A A M ^b   Raiman, J A J ^c   Walter, J H ^b   Whitehouse, W P ^d   Brown, Gary K ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^c GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^d UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BICARBONATE; DICHLOROACETIC ACID; DIGOXIN; LAMOTRIGINE; PHENOBARBITAL; PROTEIN X; THIAMINE; VALPROIC ACID;

APNEA; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CLONIC SEIZURE; CONTROLLED STUDY; CYANOSIS; DISEASE SEVERITY; DRUG RESPONSE; DYSPNEA; ELECTROENCEPHALOGRAM; FEMALE; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; HYPOGLYCEMIA; INFANT; KETOGENIC DIET; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; MALE; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN SYNTHESIS; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SUPRAVENTRICULAR TACHYCARDIA; TACHYPNEA;

CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; MALE; PROTEIN SUBUNITS; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; SEVERITY OF ILLNESS INDEX;

EID: 33747166210     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1017/S0012162206001617     Document Type: Article

References (22)

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