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56 results

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Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry.
Kuhara T. Kuhara T. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Dec 5;781(1-2):497-517. doi: 10.1016/s1570-0232(02)00670-0. J Chromatogr B Analyt Technol Biomed Life Sci. 2002. PMID: 12450676 Review.
During the pilot study for newborn screening, we found neonates with diseases at a rate of 1 per 1,400 including propionic acidemia, methylmalonic acidemia, orotic aciduria, beta-ureidopropionase deficiency, lactic aciduria and neuroblastoma. ...
During the pilot study for newborn screening, we found neonates with diseases at a rate of 1 per 1,400 including propionic acidemia, methylm …
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE; additional individual contributors. Wortmann SB, et al. J Inherit Metab Dis. 2017 May;40(3):423-431. doi: 10.1007/s10545-017-0015-9. Epub 2017 Feb 15. J Inherit Metab Dis. 2017. PMID: 28205048 Free PMC article.
Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. ...Interestingly, family screening revealed heterozygous UMPS variants in combi …
Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monopho …
Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry.
Kuhara T. Kuhara T. J Chromatogr B Biomed Sci Appl. 2001 Jul 5;758(1):3-25. doi: 10.1016/s0378-4347(01)00138-4. J Chromatogr B Biomed Sci Appl. 2001. PMID: 11482733 Review.
The highly sensitive, specific and comprehensive features of our procedure are also demonstrated by its use in establishing the chemical diagnosis of pyrimidine degradation defects in order to prevent side effects of pyrimidine analogs such as 5-flurouracil, and the differential …
The highly sensitive, specific and comprehensive features of our procedure are also demonstrated by its use in establishing the chemical dia …
Diagnostic value of urinary orotic acid levels: applicable separation methods.
Salerno C, Crifò C. Salerno C, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Dec 5;781(1-2):57-71. doi: 10.1016/s1570-0232(02)00533-0. J Chromatogr B Analyt Technol Biomed Life Sci. 2002. PMID: 12450653 Review.
Urinary orotic acid determination is a useful tool for screening hereditary orotic aciduria and for differentiating the hyperammonemia disorders which cannot be readily diagnosed by amino acid chromatography, thus reducing the need for enzyme determination in tissue …
Urinary orotic acid determination is a useful tool for screening hereditary orotic aciduria and for differentiating the hypera …
Sensitive and Selective Determination of Orotic Acid in Biological Specimens Using a Novel Fluorogenic Reaction.
Yin S, Dragusha S, Ejupi V, Shibata T, Kabashima T, Kai M. Yin S, et al. J Fluoresc. 2015 Jul;25(4):1005-11. doi: 10.1007/s10895-015-1584-3. Epub 2015 May 31. J Fluoresc. 2015. PMID: 26026930
Orotic acid is an intermediate in the synthesis pathway of uridine-5'-monophosphate, and increases in body fluids of patients suffering from hereditary disorders such as orotic aciduria and hyperammonemia. In this study, we developed a spectrofluorometric method wit …
Orotic acid is an intermediate in the synthesis pathway of uridine-5'-monophosphate, and increases in body fluids of patients suffering from …
Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report.
Silvera-Ruiz SM, Gemperle C, Peano N, Olivero V, Becerra A, Häberle J, Gruppi A, Larovere LE, Motrich RD. Silvera-Ruiz SM, et al. Front Immunol. 2022 May 27;13:861516. doi: 10.3389/fimmu.2022.861516. eCollection 2022. Front Immunol. 2022. PMID: 35711415 Free PMC article.
Laboratory tests revealed severe hyperammonemia, elevated serum levels of liver transaminases, hemostasis alterations, hyperglutaminemia and strikingly increased orotic aciduria. Noteworthy, serum protein electrophoresis showed a reduction in the gamma globulin frac …
Laboratory tests revealed severe hyperammonemia, elevated serum levels of liver transaminases, hemostasis alterations, hyperglutaminemia and …
Ion chromatographic method for the determination of orotic acid in urine.
Destanoğlu O, Zeydanlı D, Cansever MŞ, Yılmaz GG. Destanoğlu O, et al. Anal Biochem. 2018 Dec 15;563:9-14. doi: 10.1016/j.ab.2018.09.016. Epub 2018 Sep 26. Anal Biochem. 2018. PMID: 30267708
Excess urinary orotic acid excretion occurs in patients with some inborn errors of metabolic pathways such as pyrimidine synthesis and urea cycle. Thus, rapid diagnosis of orotic aciduria has a vital importance for patients. In this paper, a novel method for determi …
Excess urinary orotic acid excretion occurs in patients with some inborn errors of metabolic pathways such as pyrimidine synthesis and urea …
Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese.
Huang YT, Chien Y-, Yeh HY, Lin SJ, Lu FL, Chou SP, Lin JM, Chiang SC, Hwu WL. Huang YT, et al. J Formos Med Assoc. 2003 Dec;102(12):851-6. J Formos Med Assoc. 2003. PMID: 14976564
METHODS: During the period from January 1993 to December 2001 inclusive, 8 patients had the diagnosis of OTC deficiency by the criteria of hyperammonemia, hypocitrullinemia, and orotic aciduria. All 10 exons of the OTC gene were analyzed for mutations. ...
METHODS: During the period from January 1993 to December 2001 inclusive, 8 patients had the diagnosis of OTC deficiency by the criteria of h …
Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry.
Chen J, Bennett MJ. Chen J, et al. Methods Mol Biol. 2010;603:445-51. doi: 10.1007/978-1-60761-459-3_43. Methods Mol Biol. 2010. PMID: 20077096
The measurement of urinary orotic acid excretion is an important test for establishing a diagnosis of hereditary orotic aciduria, a genetic defect of pyrimidine biosynthesis. Measurement of secondary urinary orotic acid elevation is also an important clinical test f …
The measurement of urinary orotic acid excretion is an important test for establishing a diagnosis of hereditary orotic aciduria …
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.
Adımcılar V, Saygılı MT, Cansever MŞ, Öztekin N. Adımcılar V, et al. J Pharm Biomed Anal. 2024 Jan 20;238:115826. doi: 10.1016/j.jpba.2023.115826. Epub 2023 Oct 29. J Pharm Biomed Anal. 2024. PMID: 37922673 Review.
Orotic aciduria is a severe, hereditary, life-threatening condition, particularly in newborns. ...
Orotic aciduria is a severe, hereditary, life-threatening condition, particularly in newborns. ...
56 results