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Items: 1 to 20 of 149

1.

Orotic aciduria and uridine monophosphate synthase: a reappraisal.

Bailey CJ.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S227-33. doi: 10.1007/s10545-009-1176-y. Epub 2009 Jun 27. Review.

PMID:
19562503
2.

Orotic aciduria fibroblasts express a labile form of UMP synthase.

Perry ME, Jones ME.

J Biol Chem. 1989 Sep 15;264(26):15522-8.

3.

Hereditary orotic aciduria with epilepsy and without megaloblastic anemia.

Grohmann K, Lauffer H, Lauenstein P, Hoffmann GF, Seidlitz G.

Neuropediatrics. 2015 Apr;46(2):123-5. doi: 10.1055/s-0035-1547341. Epub 2015 Mar 10.

PMID:
25757096
4.

Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.

Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y.

Am J Hum Genet. 1997 Mar;60(3):525-39.

5.
6.

In brief: Uridine triacetate (Xuriden) for hereditary orotic aciduria.

[No authors listed]

Med Lett Drugs Ther. 2016 Mar 28;58(1491):e49. No abstract available.

PMID:
27027693
7.

Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms.

Imaeda M, Sumi S, Imaeda H, Suchi M, Kidouchi K, Togari H, Wada Y.

Tohoku J Exp Med. 1998 May;185(1):67-70.

8.

[Hereditary orotic aciduria].

Sumi S.

Ryoikibetsu Shokogun Shirizu. 2000;(32):343-5. Review. Japanese. No abstract available.

PMID:
11212739
9.

Japanese black cattle with orotic aciduria detected by gas-chromatography/mass-spectrometry.

Ohba Y, Takasu M, Nishii N, Hosoda I, Kitoh K, Matsumoto I, Zhang C, Kitagawa H.

J Vet Med Sci. 2007 Mar;69(3):313-6.

10.

[Hereditary deficiency DUMPS in cattle (uridine monophosphate synthase deficiency)].

Counnotte GH, Smidt WJ.

Tijdschr Diergeneeskd. 1990 Oct 15;115(20):958-9. Dutch. No abstract available.

PMID:
2281473
11.

Uridine-responsive hypogammaglobulinemia and congenital heart disease in a patient with hereditary orotic aciduria.

Alvarado CS, Livingstone LR, Jones ME, Ravielle A, McKolanis J, Elsas LJ.

J Pediatr. 1988 Nov;113(5):867-71. No abstract available.

PMID:
3183846
12.

HPLC assay of uridine monophosphate synthase (UMPS) in chorionic villus samples (CVS) and erythrocytes (RBC).

Fairbanks LD, Duley JA, Shores AJ, Simmonds HA.

Adv Exp Med Biol. 1991;309B:35-8. No abstract available.

PMID:
1781395
13.

Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency.

van Gennip AH, Grift J, de Bree PK, Zegers BJ, Stoop JW, Wadman SK.

Clin Chim Acta. 1979 May 2;93(3):419-28.

PMID:
109238
14.

Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria.

Harden KK, Robinson JL.

J Inherit Metab Dis. 1987;10(3):201-9.

PMID:
2448544
15.

Trypanosoma brucei (UMP synthase null mutants) are avirulent in mice, but recover virulence upon prolonged culture in vitro while retaining pyrimidine auxotrophy.

Ong HB, Sienkiewicz N, Wyllie S, Patterson S, Fairlamb AH.

Mol Microbiol. 2013 Oct;90(2):443-55. doi: 10.1111/mmi.12376. Epub 2013 Sep 9.

16.

[Hereditary orotic aciduria].

Mizuno H, Suchi M, Wada Y.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):484-6. Review. Japanese. No abstract available.

PMID:
9590108
17.

A Caenorhabditis elegans model of orotic aciduria reveals enlarged lysosome-related organelles in embryos lacking umps-1 function.

Levitte S, Salesky R, King B, Coe Smith S, Depper M, Cole M, Hermann GJ.

FEBS J. 2010 Mar;277(6):1420-39. doi: 10.1111/j.1742-4658.2010.07573.x. Epub 2010 Feb 10.

18.

DUMPS cattle carry a point mutation in the uridine monophosphate synthase gene.

Schwenger B, Schöber S, Simon D.

Genomics. 1993 Apr;16(1):241-4.

PMID:
8486364
19.

Of ammonia and orotic acid and their importance for clinical neuropediatrics.

Häberle J.

Neuropediatrics. 2015 Apr;46(2):80-1. doi: 10.1055/s-0035-1549161. Epub 2015 Mar 24. No abstract available.

PMID:
25803822
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