• A GENETIC STUDY OF HEREDITARY OROTIC ACIDURIA
• Absence of immune deficiency in hereditary orotic aciduria
• Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts
• Bone marrow examination of inherited diseases in children
• Case Report: A Novel Missense Mutation c.517G&gt;C in the <em>UMPS</em> Gene Associated With Mild Orotic Aciduria
• Case Report: A Novel Missense Mutation c.517G>C in the UMPS Gene Associated With Mild Orotic Aciduria
• Cellular immune deficiency in two siblings with hereditary orotic aciduria
• Conditional deficiencies of ornithine or arginine
• Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line
• Decreased fluorouracil cytotoxic effect on EB-virus transformed lymphocytes from hereditary orotic aciduria
• Decreased hyperammonaemia and orotic aciduria due to inactivation of ornithine aminotransferase in mice with a hereditary abnormal ornithine carbamoyltransferase
• Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria
• Determination of urinary carbamylaspartate and dihydro-orotate in normal subjects and in patients with hereditary orotic aciduria
• Diagnostic value of urinary orotic acid levels: applicable separation methods
• Disorders of human pyrimidine metabolism (author's transl)
• Enhanced uridine bioavailability following administration of a triacetyluridine-rich nutritional supplement
• Enzyme studies on diploid cell strains developed from patients with hereditary orotic aciduria
• First report of management and outcome of pregnancies associated with hereditary orotic aciduria
• Hepatic encephalopathy and orotic aciduria associated with hepatocellular carcinoma in a noncirrhotic liver
• Hereditary orotic aciduria
• Hereditary orotic aciduria
• Hereditary orotic aciduria
• Hereditary orotic aciduria
• Hereditary orotic aciduria
• Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (<em>UMPS</em>) mutation
• Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation
• Hereditary Orotic Aciduria and Citrullinemia: Bovine Models
• HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE
• Hereditary Orotic Aciduria and the Excretion of Orotidine
• Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms
• Hereditary orotic aciduria identified by newborn screening
• Hereditary orotic aciduria with epilepsy and without megaloblastic anemia
• Hereditary orotic aciduria with normal growth and development
• HEREDITARY OROTIC ACIDURIA--PYRIMIDINE AUXOTROPHISM IN MAN
• Hereditary orotic aciduria, Lesch-Nyhan syndrome, and xeroderma pigmentosum probed by herpes simplex virus: 125I-iododeoxycytidine incorporation as an assay for viral growth
• Hereditary orotic aciduria: a defect of pyrimidine metabolism with cellular immunodeficiency
• Hereditary orotic aciduria: evidence for a structural gene mutation
• Hereditary orotic aciduria: further biochemistry
• Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil
• Hereditary orotic aciduria: results of a screening survey
• Hereditary orotic aciduria: types I and II
• Hereditary orotic aciduria. I. A new case with family studies
• Hereditary orotic aciduria. II. A urinary screening test
• 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
• In brief: Uridine triacetate (Xuriden) for hereditary orotic aciduria
• Inborn errors of pyrimidine metabolism: clinical update and therapy
• Increase of protein synthesis by uridine supplement in lectin-stimulated peripheral blood lymphocytes and EB virus-transformed B cell line of hereditary orotic aciduria type I
• Megaloblastic anemia and orotic aciduria. A hereditary disorder of pyrimidine metabolism responsive to uridine
• Metabolic effect of orotic acid in calves
• Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
• Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families
• Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene
• Orotic acid induces hypertension associated with impaired endothelial nitric oxide synthesis
• Orotic acid quantification in dried blood spots and biological fluids by hydrophilic interaction liquid chromatography tandem mass spectrometry
• Orotic aciduria and uridine monophosphate synthase: a reappraisal
• Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant
• Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol
• Pyrimidine metabolism in hereditary orotic aciduria
• Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry
• Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria
• Rapid determination of orotic acid in urine by a fast liquid chromatography/tandem mass spectrometric method
• Reference intervals for orotic acid in urine, plasma and dried blood spot using hydrophilic interaction liquid chromatography-tandem mass spectrometry
• Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Turkey
• Screening for pyrimidine metabolism disorders using dried filter-paper urine samples: method development and a pilot study in Nagoya City, Japan
• Sensitive and Selective Determination of Orotic Acid in Biological Specimens Using a Novel Fluorogenic Reaction
• Structural gene coding for multifunctional protein carrying orotate phosphoribosyltransferase and OMP decarboxylase activity is located on long arm of human chromosome 3
• Studies on the coordinate activity and liability of orotidylate phosphoribosyltransferase and decarboxylase in human erythrocytes, and the effects of allopurinol administration
• Subunit structure of the orotate phosphoribosyltransferase--orotidylate decarboxylase complex from human erythrocytes
• The role of hepatic ornithine transcarbamylase deficiency in the orotic aciduria of pregnant mice
• Therapeutic potential of uracil and its derivatives in countering pathogenic and physiological disorders
• Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review
• Uracil phosphoribosyltransferase activity in hereditary orotic aciduria
• Uridine-responsive hypogammaglobulinemia and congenital heart disease in a patient with hereditary orotic aciduria