Dismorfias faciales asociadas a aciduria cetoglutárica
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference10 articles.
1. Lactic acidosis in three sibs due to defects in both pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase complexes;Haworth;Pediatrics.,1976
2. 2-ketoglutarate dehydrogenase deficiency with intermittent 2-ketoglutaric aciduria;Dunckelmann;Neuropediatrics.,2000
3. 2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case;Guffon;J Inherit Metab Dis.,1993
4. Variable clinical presentation in patients with deficiency of the pyruvate dehydrogenase complex. A review of 30 cases with a defect in the E1 component of the complex;Robinson;J Pediatr.,1987
5. «Cerebral» lactic acidosis defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis;Brown;Eur J Pediatr.,1988
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