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Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

BACKGROUND: The principal aim of this study was to investigate the long-term outcomes of a large cohort of patients with ornithine transcarbamylase deficiency (OTCD) who were followed up at a single medical center. METHODS: We analyzed clinical, biochemical and genetic parameters of 90 patients (84...

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Detalles Bibliográficos
Autores principales:	Brassier, Anais, Gobin, Stephanie, Arnoux, Jean Baptiste, Valayannopoulos, Vassili, Habarou, Florence, Kossorotoff, Manoelle, Servais, Aude, Barbier, Valerie, Dubois, Sandrine, Touati, Guy, Barouki, Robert, Lesage, Fabrice, Dupic, Laurent, Bonnefont, Jean Paul, Ottolenghi, Chris, De Lonlay, Pascale
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4443534/ https://www.ncbi.nlm.nih.gov/pubmed/25958381 http://dx.doi.org/10.1186/s13023-015-0266-1

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