The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients

Molecular Genetics and Metabolism

Volumn 105, Issue 1, 2012, Pages 34-43

  Patel, Kavi P ^a   O'Brien, Thomas W ^a   Subramony, Sankarasubramon H ^a   Shuster, Jonathan ^a   Stacpoole, Peter W ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

Congenital lactic acidosis; Dichloroacetate; Ketogenic diet; Neuroimaging; Pyruvate dehydrogenase complex; Thiamine

Indexed keywords

BINDING PROTEIN; LACTIC ACID; PYRUVATE DEHYDROGENASE COMPLEX;

BIOCHEMISTRY; BRAIN VENTRICLE DILATATION; CORPUS CALLOSUM AGENESIS; ENZYME ACTIVITY; GENETIC DISORDER; HUMAN; LACTATE BLOOD LEVEL; LEIGH DISEASE; MUSCLE HYPOTONIA; NERVE CELL DIFFERENTIATION; NEUROIMAGING; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; REVIEW; SEX DIFFERENCE; SURVIVAL;

FEMALE; HUMANS; MALE; NEUROIMAGING; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; SEX CHARACTERISTICS; TREATMENT OUTCOME;

EID: 84855353341     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.09.032     Document Type: Review

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