Associated Papers
Biocomputational frameworks for exploring ornithine transcarbamylase mutations in OTC deficiency psychosis.
Shahab SH et al.
Annals of Medicine and Surgery (2012), 2026
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
New Diagnosis of Ornithine Transcarbamylase Deficiency in a 71-Year-Old Man.
Daghreeri S et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2025
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP et al.
The New England Journal of Medicine, 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
In-depth analysis of OTC A208T case induced by OTC gene mutation and research on the prediction and simulation of the impact on protein function.
Hu Q et al.
Frontiers in Pediatrics, 2024
Secondary genomic findings in the 2020 China Neonatal Genomes Project participants.
Xiao H et al.
World Journal of Pediatrics : Wjp, 2022
Late-onset of ornithine transcarbamylase deficiency: A rare medical examiner case.
Gitto L et al.
Journal of Forensic Sciences, 2022
Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium.
Sysák R et al.
Diagnostics (basel, Switzerland), 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
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
Lu D et al.
Orphanet Journal of Rare Diseases, 2020
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
Haskins N et al.
Frontiers in Physiology, 2020
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
Häberle J et al.
Journal of Inherited Metabolic Disease, 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
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
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
Brassier A et al.
Orphanet Journal of Rare Diseases, 2015
[Ornithine carbamoyltransferase deficiency. A clinical case].
Herráiz Gastesi G et al.
Archivos Argentinos De Pediatria, 2015
Early intervention for late-onset ornithine transcarbamylase deficiency.
Fujisawa D et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.
Rivera-Barahona A et al.
Plos One, 2015
Severe hyperammonemia in late-onset ornithine transcarbamylase deficiency triggered by steroid administration.
Gascon-Bayarri J et al.
Case Reports in Neurological 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
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
Shchelochkov OA et al.
Molecular Genetics and Metabolism, 2009
n of 1 trial for an ornithine transcarbamylase deficiency carrier.
Hackett A et al.
Molecular Genetics and Metabolism, 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
How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?
Grünewald S et al.
Journal of Inherited Metabolic Disease, 2004
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.
Bisanzi S et al.
Molecular Genetics and Metabolism, 2002
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.
Genet S et al.
Journal of Inherited Metabolic Disease, 2000
Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.
McCullough BA et al.
American Journal of Medical Genetics, 2000
The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.
Tuchman M et al.
Journal of Inherited Metabolic Disease, 1998
Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.
Ausems MG et al.
American Journal of Medical Genetics, 1997
Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation.
van Diggelen OP et al.
Clinical Genetics, 1996
Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency.
Tuchman M et al.
American Journal of Medical Genetics, 1995
Clinical, biochemical, and molecular findings in adults with hyperammonemia: A French bi-centric retrospective study.
Maquet J et al.
Molecular Genetics and Metabolism, 0