Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

BACKGROUND: The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients examined at a single reference center in Argentina. RESULTS: For...

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Detalles Bibliográficos
Autores principales: Silvera-Ruiz, Silene M., Arranz, José A., Häberle, Johannes, Angaroni, Celia J., Bezard, Miriam, Guelbert, Norberto, Becerra, Adriana, Peralta, Fernanda, de Kremer, Raquel Dodelson, Laróvere, Laura E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6700778/
https://www.ncbi.nlm.nih.gov/pubmed/31426867
http://dx.doi.org/10.1186/s13023-019-1177-3

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