A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation

Molecular Genetics and Metabolism

Volumn 87, Issue 2, 2006, Pages 175-177

  Schiff, Manuel ^a,b   Levrat, Virginie ^a   Acquaviva, Cécile ^b   Vianey Saban, Christine ^b   Rolland, Marie Odile ^b   Guffon, Nathalie ^a  

^a EDOUARD HERRIOT HOSPITAL   (France)

^b HÔPITAL DEBROUSSE   (France)

Author keywords

Anaplerosis; Gluconeogenesis; Lactic acidemia; Neuroimaging; Pyruvate carboxylase deficiency; Subcortical Leucodystrophy; Subcortical white matter

Indexed keywords

BICARBONATE; BIOTIN; CARNITINE; CITRATE SODIUM; PYRUVATE CARBOXYLASE;

ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DRUG MEGADOSE; DYSARTHRIA; DYSGRAPHIA; FAILURE TO THRIVE; FIBROBLAST CULTURE; HUMAN; HUMAN CELL; LABORATORY TEST; LACTIC ACIDEMIA; LEUKODYSTROPHY; MALE; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PYRUVATE CARBOXYLASE DEFICIENCY; SCHOOL CHILD; SKIN FIBROBLAST;

BRAIN; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; PSYCHOMOTOR DISORDERS; PYRUVATE CARBOXYLASE; PYRUVATE CARBOXYLASE DEFICIENCY DISEASE;

EID: 32044435849     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.10.007     Document Type: Article

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