Associated Papers
Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.
Ramosaj A et al.
Journal of Inherited Metabolic Disease, 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
Aquaporin 9 induction in human iPSC-derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency.
Laemmle A et al.
Hepatology (baltimore, Md.), 2022
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
Haskins N et al.
Frontiers in Physiology, 2020
33551825 (PubMed )
Supplement: Data_Sheet_1.zip › SupplementaryData_DataSheet › Supplementary_Tables_S1-S6.xlsx › Table_S4
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).
Laemmle A et al.
Plos One, 2016
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
Choi JH et al.
Journal of Human Genetics, 2015
Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency.
Liu J et al.
International Journal of Clinical and Experimental Medicine, 2015
OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.
Lee JH et al.
Pediatric Neurology, 2014
[Analysis of clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency].
Wang Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.
Storkanova G et al.
Clinical Genetics, 2013
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.
Tuchman M et al.
Journal of Inherited Metabolic Disease, 1998
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M
Human Mutation, 1993
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