Orotic Aciduria Type 1 Latest Advances
Find the Latest Research About Orotic Aciduria Type 1
Last Updated: 02/24/2026
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Found 223 publications
An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.
Journal: Mitochondrion
Published: July 03, 2024
Highly sensitive rapid determination of orotic acid in urine samples using a field-amplified sample stacking approach in capillary electrophoresis coupled with contactless conductivity detection.
Journal: Journal of pharmaceutical and biomedical analysis
Published: August 11, 2023
Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies.
Journal: Human gene therapy
Published: June 23, 2023
Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme.
Journal: Clinical chemistry and laboratory medicine
Published: February 28, 2023
Hereditary orotic aciduria identified by newborn screening.
Journal: Frontiers in genetics
Published: December 31, 2022
Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: June 22, 2022
N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.
Journal: JIMD reports
Published: May 07, 2022
Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report.
Journal: Frontiers in immunology
Published: January 24, 2022
Case Report: A Novel Missense Mutation c.517G>C in the UMPS Gene Associated With Mild Orotic Aciduria.
Journal: Frontiers in neurology
Published: November 20, 2021
Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review.
Journal: Annals of clinical and translational neurology
Published: November 04, 2020
Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation.
Journal: Molecular genetics and metabolism reports
Published: September 08, 2020
Last Updated: 02/24/2026