Browsing by Author "Arranz Amo, Antonio"
Now showing items 1-1 of 1
-
Ornithine transcarbamylase deficiency: identification of mutations, computational validation, and phenotypic correlation in argentinian patients
Silvera Ruíz, Silene Maite; Arranz Amo, Antonio; Dodelson de Kremer, Raquel; Larovere, Laura Elena (2013)Ornithine transcarbamylase deficiency (OTCD; Online Mendelian Inheritance in Man [OMIM] 311250) is an urea cycle defect with Xlinked inheritance. In hemizygous males, neonatal or late onset depends on the degree of ...