Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients
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Author / Creator
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 and De Lonlay, Pascale
Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
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.
We analyzed clinical, biochemical and genetic parameters of 90 patients (84 families, 48 males and 42 females) with OTCD between 1971 and 2011.<...
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Full title
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4443534
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4443534
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-015-0266-1
