基因筛查 - Suppr | 超能文献

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Genetic screening.

作者信息

Levy H L

出版信息

Adv Hum Genet. 1973;4:1-104. doi: 10.1007/978-1-4615-8261-8_1.

DOI:10.1007/978-1-4615-8261-8_1

PMID:4593296

Abstract

摘要

相似文献

Genetic screening.基因筛查

Adv Hum Genet. 1973;4:1-104. doi: 10.1007/978-1-4615-8261-8_1.

The value of screening in paediatrics.儿科筛查的价值。

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Neonatal screening for inborn errors of amino acid metabolism.新生儿氨基酸代谢先天性疾病筛查。

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[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods].[先天性氨基酸代谢紊乱的诊断。重要症状和实验室方法]

Fortschr Med. 1972 Apr 13;90(11):430-1.

[Dietetics in hereditary enzyme deficiencies].[遗传性酶缺乏症中的饮食学]

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[The inborn errors of metabolism of amino acids].[氨基酸代谢的先天性缺陷]

Postepy Biochem. 1973;19(1):91-122.

Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world: a collaborative study.世界各地一些代表性新生儿筛查中心先天性代谢缺陷尤其是苯丙酮尿症的发病率：一项合作研究。

Humangenetik. 1975 Dec 23;30(4):273-86.

The aminoacidurias.

Pediatr Clin North Am. 1967 Nov;14(4):881-903. doi: 10.1016/s0031-3955(16)32062-4.

[Hereditary amino acid metabolism disorders. Indications for early diagnosis].[遗传性氨基酸代谢紊乱。早期诊断的指征]

Fortschr Med. 1972 Apr 13;90(11):423-8.

[Eye manifestations of amino acid disorders].[氨基酸紊乱的眼部表现]

Minerva Pediatr. 1978 May 31;30(10):761-80.

引用本文的文献

The molecular basis of cystinuria: the role of the rBAT gene.胱氨酸尿症的分子基础：rBAT 基因的作用。

Amino Acids. 1996 Jun;11(2):225-46. doi: 10.1007/BF00813862.

Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis".足月苯丙酮尿症胎儿的脐血酪氨酸水平与“合理性假说”

Proc Natl Acad Sci U S A. 1980 Oct;77(10):6175-8. doi: 10.1073/pnas.77.10.6175.

Genetic screening: implications for preventive medicine.基因筛查：对预防医学的影响。

Am J Public Health. 1983 Mar;73(3):243-5. doi: 10.2105/ajph.73.3.243.

Glutathionuria: gamma-glutamyl transpeptidase deficiency.谷胱甘肽尿症：γ-谷氨酰转肽酶缺乏症。

J Inherit Metab Dis. 1980;2(1):3-7. doi: 10.1007/BF01805554.

Blood cells as markers for metabolic disorders.血细胞作为代谢紊乱的标志物。

Blut. 1985 Dec;51(6):371-6. doi: 10.1007/BF00320722.

Newborn screening by DNA analysis of dried blood spots.

Hum Genet. 1989 May;82(2):134-6. doi: 10.1007/BF00284045.

Letter: Current state-supported neonatal screening programs.信函：当前国家支持的新生儿筛查项目。

Am J Hum Genet. 1975 Sep;27(5):691-3.

Variants of galactose-1-phosphate uridyl transferase in the Greek populations.

Hum Genet. 1977 May 10;36(3):335-9. doi: 10.1007/BF00446285.

Maple syrup urine disease: treatment of the acutely ill newborn.

Eur J Pediatr. 1978 Oct 12;129(3):157-65. doi: 10.1007/BF00442159.

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