Associated Papers
Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review.
Przybycień A et al.
Postepy Psychiatrii Neurologii, 2025
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
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
Clinical and Genetic Analysis of 8 Children With Ornithine Transcarbamylase Deficiency: Two Novel Mutations.
Zhang C et al.
Neurology. Genetics, 2024
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.
Siri B et al.
Orphanet Journal of Rare Diseases, 2024
Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report.
Martín-Rivada Á et al.
Frontiers in Nutrition, 2024
[Analysis of OTC gene variants in four children with delayed onset Ornithine transcarbamylase deficiency].
Xie L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.
Lahtinen AK et al.
Bone Marrow Transplantation, 2023
Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment.
Yamamoto S et al.
The American Journal of Case Reports, 2022
Liver transplantation for late-onset ornithine transcarbamylase deficiency: A case report.
Fu XH et al.
World Journal of Clinical Cases, 2022
Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency.
Imoto K et al.
Bmc Gastroenterology, 2022
Case Report: Juvenile Myelomonocytic Leukemia Underlying Ornithine Transcarbamylase Deficiency Safely Treated Using Hematopoietic Stem Cell Transplantation.
Eguchi H et al.
Frontiers in Pediatrics, 2022
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.
Kido J et al.
Frontiers in Genetics, 2022
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
Gobin-Limballe S et al.
Journal of Inherited Metabolic Disease, 2021
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
Lopes-Marques M et al.
Human Mutation, 2021
Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Kido J et al.
American Journal of Medical Genetics. Part A, 2021
Fatal Encephalopathy Caused by a Urea Cycle Disorder.
Park SH et al.
Journal of Clinical Neurology (seoul, Korea), 2021
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
Lu D et al.
Orphanet Journal of Rare Diseases, 2020
The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients.
Zhou Q et al.
Biomed Research International, 2020
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
Haskins N et al.
Frontiers in Physiology, 2020
Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.
Koya Y et al.
Internal Medicine (tokyo, Japan), 2019
Hyperammonemia and lactic acidosis in adults: Differential diagnoses with a focus on inborn errors of metabolism.
Tchan M
Reviews in Endocrine & Metabolic Disorders, 2018
Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.
Shao Y et al.
Clinical Genetics, 2017
Late-onset ornithine transcarbamylase deficiency associated with hyperammonemia.
Daijo K et al.
Clinical Journal of Gastroenterology, 2017
Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene-Expanding the Clinical Phenotype.
Sánchez AI et al.
Case Reports in Genetics, 2017
Improving the in silico assessment of pathogenicity for compensated variants.
Azevedo L et al.
European Journal of Human Genetics : Ejhg, 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
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
Brassier A et al.
Orphanet Journal of Rare Diseases, 2015
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.
Magesh R et al.
3 Biotech, 2014
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
Martín-Hernández E et al.
Orphanet Journal of Rare Diseases, 2014
[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].
Han F et al.
Zhonghua Yi Xue Za Zhi, 2014
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
Cavicchi C et al.
Orphanet Journal of Rare Diseases, 2014
[Comparison and clinical application of two methods for determination of plasma chitotriosidase activity].
Wang Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
[Analysis of clinical features, biochemical analysis and gene mutations in one Chinese pedigree with neonatal-onset ornithine transcarbamylase deficiency].
Sun WH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature.
Pinner JR et al.
Journal of Medical Case Reports, 2010
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
Numata S et al.
Journal of Human Genetics, 2010
Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency.
Panlaqui OM et al.
Intensive Care Medicine, 2008
Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.
Klein OD et al.
Hepatology International, 2008
Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients.
Numata S et al.
Journal of Human Genetics, 2008
Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential.
Arranz JA et al.
Journal of Inherited Metabolic Disease, 2007
Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile.
Harada E et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2006
How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?
Grünewald S et al.
Journal of Inherited Metabolic Disease, 2004
Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies.
Rohininath T et al.
Journal of Inherited Metabolic Disease, 2004
Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency.
Kurihara A et al.
Brain & Development, 2003
Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency.
Takanashi J et al.
Neurology, 2002