Associated Papers
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
Gobin-Limballe S et al.
Journal of Inherited Metabolic Disease, 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
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
Haskins N et al.
Frontiers in Physiology, 2020
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Silvera-Ruiz SM et al.
Orphanet Journal of Rare Diseases, 2019
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Wang T et al.
Frontiers in Genetics, 2019
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
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
Brassier A et al.
Orphanet Journal of Rare Diseases, 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
Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management.
Grünert SC et al.
Journal of Diabetes and Metabolic Disorders, 2013
Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation.
Rodney S et al.
Jimd Reports, 2013
Clinical outcome of hepatocyte transplantation in four pediatric patients with inherited metabolic diseases.
Ribes-Koninckx C et al.
Cell Transplantation, 2012
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
1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency.
Shi D et al.
The Journal of Biological Chemistry, 1998
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
Calvas P et al.
Human Mutation, 1998
The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.
Tuchman M et al.
Journal of Inherited Metabolic Disease, 1998
Ornithine transcarbamylase deficiency: new sites with increased probability of mutation.
Oppliger Leibundgut EO et al.
Human Genetics, 1995
1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.
Gropman AL et al.
Molecular Genetics and Metabolism, 0