MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency

Pediatric Neurology

Volumn 45, Issue 1, 2011, Pages 57-59

  Ah Mew, Nicholas ^a   Loewenstein, Johanna B ^a   Kadom, Nadja ^a   Lichter Konecki, Uta ^a   Gropman, Andrea L ^a   Martin, Jodie M ^a   Vanderver, Adeline ^a  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; LACTIC ACID; PYRUVATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE E1 ALPHA; PYRUVIC ACID; UNCLASSIFIED DRUG;

ARTICLE; BIRTH WEIGHT; BRAIN ATROPHY; BRAIN MALFORMATION; BRAIN VENTRICLE DILATATION; CASE REPORT; ENCEPHALOMALACIA; FEEDING DISORDER; FEMALE; GASTROESOPHAGEAL REFLUX; GENE MUTATION; GENE SEQUENCE; GESTATIONAL AGE; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HETEROZYGOSITY; HUMAN; INCOMPLETE CORPUS CALLOSUM; INFANTILE SPASM; INTRACTABLE EPILEPSY; IRRITABILITY; LACTATE BLOOD LEVEL; MICROCEPHALY; MILK INTOLERANCE; MOLECULAR DIAGNOSIS; MUSCLE CONTRACTURE; MUSCLE HYPOTONIA; NEWBORN; NEWBORN JAUNDICE; NOSE CONGESTION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PHENOTYPE; PONS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; PYRUVATE DEHYDROGENASE E1 ALPHA DEFICIENCY; SLEEP APNEA SYNDROME; VISUAL DISORDER; WHITE MATTER;

BRAIN; CORPUS CALLOSUM; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE;

EID: 79960018721     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2011.02.003     Document Type: Article

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