3-Hydroxy-3-Methylglutaryl Coenzyme A Lyase Deficiency with Reversible White Matter Changes after Treatment

Pediatric Neurology

Volumn 37, Issue 1, 2007, Pages 47-50

  Zafeiriou, Dimitrios I ^a   Vargiami, Euthymia ^a   Mayapetek, Ertan ^b   Augoustidou Savvopoulou, Persephone ^a   Mitchell, Grant A ^c  

^a ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXY 3 METHYLGLUTARYL COENZYME A; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; GLUCOSE; HYDROXYMETHYLGLUTARYL COENZYME A LYASE; LEUCINE; UNCLASSIFIED DRUG;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BRAIN CORTEX ATROPHY; CASE REPORT; CLINICAL FEATURE; ENZYME ANALYSIS; ENZYME DEFECT; FRAMESHIFT MUTATION; GLUCOSE BLOOD LEVEL; HETEROZYGOSITY; HUMAN; HYPOGLYCEMIA; INFANT; MALE; MOLECULAR GENETICS; NERVE CELL DIFFERENTIATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; PRIORITY JOURNAL; TONIC CLONIC SEIZURE; WHITE MATTER;

AMINO ACID SEQUENCE; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; OXO-ACID-LYASES; POINT MUTATION;

EID: 34447109475     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2007.02.007     Document Type: Article

References (12)

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