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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4443534/
https://ncbi.nlm.nih.gov/pubmed/25958381
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0266-1
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