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

9 May 2015

Abstract excerpt

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 families, 48 males and 42 females) with OTCD between 1971 and 2011. RESULTS: Twenty-seven patients (22 boys, 5...

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PMID: 25958381
DOI: 10.1186/s13023-015-0266-1

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