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

Molecular Genetics and Metabolism

Volumn 106, Issue 3, 2012, Pages 385-394

  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

BICARBONATE; DICHLOROACETIC ACID; LACTIC ACID; PYRUVATE DEHYDROGENASE COMPLEX; THIAMINE;

ATAXIA; BIOCHEMISTRY; BRAIN VENTRICLE DILATATION; CEREBROSPINAL FLUID; CHOREOATHETOSIS; COMPUTER ASSISTED TOMOGRAPHY; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; ERRATUM; FACE DYSMORPHIA; FRAMESHIFT MUTATION; HUMAN; INFORMATION RETRIEVAL; KETOGENIC DIET; LACTIC ACIDOSIS; LEIGH DISEASE; MAJOR CLINICAL STUDY; MENTAL DEVELOPMENT; MICROCEPHALY; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPTIC NERVE ATROPHY; OUTCOME ASSESSMENT; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; PTOSIS; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RESPIRATORY DISTRESS; SEIZURE; SPASTICITY; STRABISMUS; TREATMENT INDICATION;

FEMALE; HUMANS; MALE; PUBMED; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE;

EID: 84862528520     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.03.017     Document Type: Erratum

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