Pyruvate carboxylase deficiency. Report of a case and additional evidence for the "mild" phenotype.

Autor: Arnold GL; Department of Pediatrics, University of Rochester, School of Medicine and Dentistry, New York 14642, USA., Griebel ML, Porterfield M, Brewster M
Jazyk: angličtina
Zdroj: Clinical pediatrics [Clin Pediatr (Phila)] 2001 Sep; Vol. 40 (9), pp. 519-21.
DOI: 10.1177/000992280104000909
Databáze: MEDLINE