Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency

Developmental Medicine and Child Neurology

Volumn 54, Issue 5, 2012, Pages 469-471

  Sharma, Ruchi ^a   Sharrard, Mark J ^a   Connolly, Daniel J ^a   Mordekar, Santosh R ^a  

^a SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DICHLOROACETIC ACID; PYRUVATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE E1 ALPHA; PYRUVIC ACID; UNCLASSIFIED DRUG;

ARTICLE; BLOOD LEVEL; BRAIN CYST; BRAIN VENTRICLE DILATATION; CASE REPORT; CELL ASSAY; CEREBROSPINAL FLUID LEVEL; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; ENCEPHALOMALACIA; ENZYME DEFICIENCY; ENZYME SUBUNIT; FAILURE TO THRIVE; FEMALE; HUMAN; KETOGENIC DIET; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; MEDICAL HISTORY; MICROCEPHALY; MUSCLE HYPERTONIA; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE DEFICIENCY; SKIN FIBROBLAST; SUBEPENDYMAL CYST; UNSPECIFIED SIDE EFFECT;

ACIDOSIS, LACTIC; ALLELES; CEREBRAL VENTRICLES; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; HUMANS; IMAGE INTERPRETATION, COMPUTER-ASSISTED; INFANT; INFANT, NEWBORN; LACTIC ACID; LEUKOMALACIA, PERIVENTRICULAR; LONGITUDINAL STUDIES; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; NEUROLOGIC EXAMINATION; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE;

EID: 84859482289     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2011.04108.x     Document Type: Article

References (7)

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