Hereditary orotic aciduria with normal growth and development.

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作者信息

Tubergen D G, Krooth R S, Heyn R M

出版信息

Am J Dis Child. 1969 Dec;118(6):864-70. doi: 10.1001/archpedi.1969.02100040866009.

DOI:10.1001/archpedi.1969.02100040866009

PMID:5353014

Abstract

摘要

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Hereditary orotic aciduria with normal growth and development.

Am J Dis Child. 1969 Dec;118(6):864-70. doi: 10.1001/archpedi.1969.02100040866009.

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Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol.

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Mechanism of allopurinol-mediated increase in enzyme activity in man.

J Clin Invest. 1972 Jul;51(7):1823-32. doi: 10.1172/JCI106984.

[Effect of thymine and adenine in nutrition on folic-acid deficient rats].

Z Ernahrungswiss. 1974 Sep;13(3):101-7. doi: 10.1007/BF02021369.

Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts.

Am J Hum Genet. 1988 Jul;43(1):86-94.

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相似文献

Hereditary orotic aciduria with normal growth and development.

Am J Dis Child. 1969 Dec;118(6):864-70. doi: 10.1001/archpedi.1969.02100040866009.

Megaloblastic anemia and orotic aciduria. A hereditary disorder of pyrimidine metabolism responsive to uridine.

Am J Dis Child. 1967 Jun;113(6):733-40. doi: 10.1001/archpedi.1967.02090210147020.

Orotic aciduria. Differing enzyme patterns.

Am J Med. 1969 Aug;47(2):332-6. doi: 10.1016/0002-9343(69)90160-0.

Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil.

J Pediatr. 1969 Nov;75(5):885-91. doi: 10.1016/s0022-3476(69)80318-5.

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

Med Lett Drugs Ther. 2016 Mar 28;58(1491):e49.

Hereditary orotic aciduria: types I and II.

Am J Med. 1973 Dec;55(6):791-8. doi: 10.1016/0002-9343(73)90260-x.

Hereditary Orotic Aciduria and the Excretion of Orotidine.

Neuropediatrics. 2016 Dec;47(6):408-409. doi: 10.1055/s-0036-1587594. Epub 2016 Aug 30.

Hereditary orotic aciduria.

Aust Paediatr J. 1970 Mar;6(1):47-52. doi: 10.1111/j.1440-1754.1970.tb02858.x.

HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE.

Br Med J. 1965 Feb 27;1(5434):547-52. doi: 10.1136/bmj.1.5434.547.

Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol.

Eur J Clin Invest. 1980 Aug;10(4):333-9. doi: 10.1111/j.1365-2362.1980.tb00041.x.

引用本文的文献

Hereditary orotic aciduria identified by newborn screening.

Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023.

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

J Inherit Metab Dis. 2017 May;40(3):423-431. doi: 10.1007/s10545-017-0015-9. Epub 2017 Feb 15.

Mechanism of allopurinol-mediated increase in enzyme activity in man.

J Clin Invest. 1972 Jul;51(7):1823-32. doi: 10.1172/JCI106984.

[Effect of thymine and adenine in nutrition on folic-acid deficient rats].

Z Ernahrungswiss. 1974 Sep;13(3):101-7. doi: 10.1007/BF02021369.

Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts.

Am J Hum Genet. 1988 Jul;43(1):86-94.

The influence of ammonia on purine and pyrimidine nucleotide biosynthesis in rat liver and brain in vitro.

Biochem J. 1978 Jun 15;172(3):457-64. doi: 10.1042/bj1720457.