遗传性乳清酸尿症。I. 一例新病例及家系研究。 - Suppr

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超能文献

Hereditary orotic aciduria. I. A new case with family studies.

作者信息

Rogers L E, Warford L R, Patterson R B, Porter F S

出版信息

Pediatrics. 1968 Sep;42(3):415-22.

PMID:5677482

Abstract

摘要

相似文献

Hereditary orotic aciduria. I. A new case with family studies.遗传性乳清酸尿症。I. 一例新病例及家系研究。

Pediatrics. 1968 Sep;42(3):415-22.

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: types I and II.遗传性乳清酸尿症：I型和II型。

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

Orotic aciduria in a girl with normal growth and development.

J Pediatr. 1969 May;74(5):826-7. doi: 10.1016/s0022-3476(69)80169-1.

Hereditary orotic aciduria: results of a screening survey.

J Lab Clin Med. 1975 Feb;85(2):287-91.

[Study of a case of megaloblastic anemia in a child with abnormal excretion of orotic acid].

Nouv Rev Fr Hematol. 1965 May-Jun;5(3):445-57.

Orotic aciduria.乳清酸尿症

Nutr Rev. 1969 May;27(5):142-4. doi: 10.1111/j.1753-4887.1969.tb04997.x.

Enzyme studies on diploid cell strains developed from patients with hereditary orotic aciduria.对遗传性乳清酸尿症患者所培育的二倍体细胞株进行的酶学研究。

Johns Hopkins Med J. 1967 Feb;120(2):81-8.

Pyrimidine metabolism in man.人类嘧啶代谢。

N Engl J Med. 1973 Apr 12;288(15):764-71. doi: 10.1056/NEJM197304122881505.

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.

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Megaloblastic anemia--a rare cause.巨幼细胞性贫血——一种罕见的病因。

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Activity of orotate metabolizing enzyme complex and various urea-cycle enzymes in mutant mice with ornithine transcarbamylase deficiency.鸟氨酸转氨甲酰酶缺乏突变小鼠中乳清酸代谢酶复合物及各种尿素循环酶的活性

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Mechanism of allopurinol-mediated increase in enzyme activity in man.别嘌醇介导的人体酶活性增加的机制。

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Folate deficiency in premature infants.早产儿的叶酸缺乏

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Hereditary orotic aciduria: evidence for a structural gene mutation.遗传性乳清酸尿症：结构基因突变的证据。

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