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7. Isolated Orotic Aciduria in an 11-Year-Old Boy. Vakili H; Umaña LA; Patel K Clin Chem; 2020 Feb; 66(2):396-397. PubMed ID: 32040582 [No Abstract] [Full Text] [Related]
8. Neonatal diagnosis of orotic aciduria: an experience with one family. McClard RW; Black MJ; Jones ME; Young SR; Berkowitz GP J Pediatr; 1983 Jan; 102(1):85-8. PubMed ID: 6848734 [No Abstract] [Full Text] [Related]
9. 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; 93(3):419-28. PubMed ID: 109238 [TBL] [Abstract][Full Text] [Related]
10. [Metabolic effects of orotic acid]. Müller G Z Gesamte Inn Med; 1984 Jun; 39(12):269-73. PubMed ID: 6485418 [TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 3183846 [No Abstract] [Full Text] [Related]
12. 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. PubMed ID: 25757096 [TBL] [Abstract][Full Text] [Related]
13. Orotic aciduria fibroblasts express a labile form of UMP synthase. Perry ME; Jones ME J Biol Chem; 1989 Sep; 264(26):15522-8. PubMed ID: 2475503 [TBL] [Abstract][Full Text] [Related]
14. Absence of immune deficiency in hereditary orotic aciduria. Becroft DM; Phillips LI; Webster DR; Wilson JD N Engl J Med; 1984 May; 310(20):1333-4. PubMed ID: 6717503 [No Abstract] [Full Text] [Related]
15. Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria. Ohba S; Kidouchi K; Toyama J; Oda T; Tsuboi T; Ichiki T; Sobajima H; Sugiyama N; Morishita H; Købayashi M J Inherit Metab Dis; 1993; 16(5):872-5. PubMed ID: 8295404 [No Abstract] [Full Text] [Related]
19. 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. PubMed ID: 9042911 [TBL] [Abstract][Full Text] [Related]
20. The uricosuria and orotic aciduria induced by 6-azauridine. FALLON HJ; FREI E; BLOCK J; SEEGMILLER JE J Clin Invest; 1961 Oct; 40(10):1906-14. PubMed ID: 13891472 [No Abstract] [Full Text] [Related] [Next] [New Search]