使用干血标本对精氨琥珀酸尿症、乳清酸尿症及其他遗传性酶缺乏症进行筛查检测。 - Suppr

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Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens.

作者信息

Murphey W H, Patchen L, Guthrie R

出版信息

Biochem Genet. 1972 Feb;6(1):51-9. doi: 10.1007/BF00485965.

DOI:10.1007/BF00485965

PMID:4199795

Abstract

摘要

相似文献

Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens.使用干血标本对精氨琥珀酸尿症、乳清酸尿症及其他遗传性酶缺乏症进行筛查检测。

Biochem Genet. 1972 Feb;6(1):51-9. doi: 10.1007/BF00485965.

A guide to screening newborn infants for inborn errors of metabolism.新生儿代谢性遗传病筛查指南

J Pediatr. 1973 Mar;82(3):511-22. doi: 10.1016/s0022-3476(73)80136-2.

[Argininosuccinic acid, technics of biochemical study (apropos of a case of argininosuccinyluria)].[精氨琥珀酸，生化研究技术（关于一例精氨琥珀酰尿症病例）]

Lille Med. 1975 Mar;20(3):169-79.

Hereditary orotic aciduria: results of a screening survey.

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

The pathological findings in a case of argininosuccinic aciduria.一例精氨基琥珀酸尿症的病理检查结果。

J Ment Defic Res. 1971 Dec;15 Pt 4(0):266-70. doi: 10.1111/j.1365-2788.1971.tb01165.x.

Letter: Survival of infant with argininosuccinic aciduria to 3 months of age.信件：精氨琥珀酸尿症婴儿存活至3个月龄。

J Pediatr. 1975 Apr;86(4):639. doi: 10.1016/s0022-3476(75)80177-6.

Orotic aciduria. Differing enzyme patterns.

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

Argininosuccinic aciduria: antenatal investigations in an affected family.精氨基琥珀酸尿症：一个患病家庭的产前检查

Am J Obstet Gynecol. 1974 Oct 15;120(4):560-2. doi: 10.1016/0002-9378(74)90639-5.

Argininosuccinate lyase levels in blood, liver and cultured fibroblasts of a patient with argininosuccinic aciduria.

Clin Chim Acta. 1973 Jun 14;46(1):33-7. doi: 10.1016/0009-8981(73)90099-5.

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.

引用本文的文献

Newborn screening in North America.北美地区的新生儿筛查。

J Inherit Metab Dis. 2007 Aug;30(4):447-65. doi: 10.1007/s10545-007-0690-z. Epub 2007 Jul 23.

Clinical biochemistry of the neonatal period: immaturity, hypoxia, and metabolic disease.新生儿期临床生物化学：不成熟、缺氧与代谢性疾病。

J Clin Pathol. 1987 Sep;40(9):1128-44. doi: 10.1136/jcp.40.9.1128.

Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.精氨基琥珀酸尿症：通过放射自显影片法将精氨基琥珀酸裂解酶基因定位于人类染色体7的pter至q22区域。

Proc Natl Acad Sci U S A. 1978 Dec;75(12):6159-62. doi: 10.1073/pnas.75.12.6159.

本文引用的文献

HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE.遗传性乳清酸尿症与巨幼细胞贫血：第二例病例及对尿苷的反应

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

ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS.精氨基琥珀酸尿症。人血细胞中的精氨基琥珀酸酶和精氨酸酶。

Clin Sci. 1964 Apr;26:261-9.

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.一种用于在大量新生儿群体中检测苯丙酮尿症的简易苯丙氨酸方法。

Pediatrics. 1963 Sep;32:338-43.

Multiple forms of glutamic-oxalacetic transaminase in tissues.组织中谷氨酸草酰乙酸转氨酶的多种形式。

Proc Soc Exp Biol Med. 1963 Jan;112:144-9. doi: 10.3181/00379727-112-27975.

Minimal media for quantitative studies with Bacillus subtilis.用于枯草芽孢杆菌定量研究的基本培养基。

J Bacteriol. 1958 May;75(5):517-22. doi: 10.1128/jb.75.5.517-522.1958.

Genetic variant of human erythrocyte malate dehydrogenase.人类红细胞苹果酸脱氢酶的基因变体

Nature. 1967 Aug 12;215(5102):761-2. doi: 10.1038/215761a0.

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.

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.

Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia.精氨琥珀酸尿症。两例新病例报告及血氨间歇性升高的证明

Am J Med. 1967 Jan;42(1):9-26. doi: 10.1016/0002-9343(67)90003-4.

Arginosuccine aciduria.精氨琥珀酸尿症

Am J Dis Child. 1967 Jan;113(1):162-5.

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