Associated Papers
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene.
Zhang Y et al.
Orphanet Journal of Rare Diseases, 2025
Newborn ornithine carbamyltransferase deficiency caused by new OTC gene mutations: a report of two cases and review of the literature on phenotype and genotype.
Yu A et al.
Translational Pediatrics, 2023
37969118 (PubMed )
Supplement: tp-12-10-1887-prf.pdf
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.
Storkanova G et al.
Clinical Genetics, 2013
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
Janečková H et al.
Journal of Chromatography. A, 2012
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