Ornithine transcarbamylase deficiency: identification of mutations, computational validation, and phenotypic correlation in argentinian patients

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 residual enzymatic activity. In heterozygous females, symptom presentation depen...

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Detalles Bibliográficos
Autores principales:	Silvera Ruíz, Silene Maite, Arranz Amo, Antonio, Dodelson de Kremer, Raquel, Larovere, Laura Elena
Formato:	conferenceObject
Lenguaje:	Inglés
Publicado:	2022
Materias:	Hiperammonemia Ornithine
Acceso en línea:	http://hdl.handle.net/11086/29954
Aporte de:	Repositorio Digital Universitario (UNC) de Universidad Nacional de Córdoba

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