马萨诸塞州新生儿半乳糖血症筛查 - Suppr

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超能文献

Galactosemia screening of newborns in Massachusetts.

作者信息

Shih V E, Levy H I, Karolkewicz V, Houghton S, Efron M L, Isselbacher K J, Beutler E, MacCready R A

出版信息

N Engl J Med. 1971 Apr 8;284(14):753-7. doi: 10.1056/NEJM197104082841404.

DOI:10.1056/NEJM197104082841404

PMID:4926707

Abstract

摘要

相似文献

Galactosemia screening of newborns in Massachusetts.马萨诸塞州新生儿半乳糖血症筛查

N Engl J Med. 1971 Apr 8;284(14):753-7. doi: 10.1056/NEJM197104082841404.

[Screening of newborns for inborn errors of galactose metabolism. Methods and results].[新生儿半乳糖代谢先天性缺陷的筛查。方法与结果]

Monatsschr Kinderheilkd (1902). 1976 Sep;129(9):654-7.

Newborn screening for galactosemia: a new method used in Manitoba.新生儿半乳糖血症筛查：曼尼托巴省采用的一种新方法。

Pediatrics. 1989 Aug;84(2):331-5.

Screening for galactosemia in New York State.纽约州半乳糖血症筛查

Public Health Rep (1896). 1970 Jul;85(7):575-8.

[Activity of galactose-1-phosphate uridyl transferase in erythrocytes of healthy children and adults (contribution to the diagnosis of galactosemia)].[健康儿童和成人红细胞中1-磷酸半乳糖尿苷转移酶的活性（对半乳糖血症诊断的贡献）]

Klin Padiatr. 1973 Jan;185(1):12-8.

Screening for galactosemia. Studies of the gene frequencies for galactosemia and the Duarte variant.半乳糖血症筛查。半乳糖血症和杜阿尔特变异型的基因频率研究。

Isr J Med Sci. 1973 Sep-Oct;9(9):1323-9.

[Screening for galactose-1-phosphate uridyltransferase deficiency (classic galactosemia) in newborns].

Acta Biol Med Ger. 1977;36(5-6):797-800.

Newborn screening for galactosemia and other galactose metabolic defects.新生儿半乳糖血症及其他半乳糖代谢缺陷筛查。

J Pediatr. 1978 Jun;92(6):871-7. doi: 10.1016/s0022-3476(78)80351-5.

[Organization of a screening program for congenital metabolic disorders in newborn infants in Berlin--problems, results and experiences. 1. Screening tests for classical galactosemia].

Z Med Lab Diagn. 1977 Dec;18(6):350-5.

[Mass testing of newborn infants for galactosemia and galactose deficiency].[新生儿半乳糖血症和半乳糖缺乏的大规模检测]

Hippokrates. 1970 Jun;41(2):281-2.

引用本文的文献

Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.1-磷酸半乳糖尿苷酰转移酶基因常见突变分析：提高半乳糖血症新生儿筛查敏感性和特异性的新检测方法

J Mol Diagn. 2003 Feb;5(1):42-7. doi: 10.1016/S1525-1578(10)60450-3.

Incidence and features of galactosaemia in Saudi Arabs.沙特阿拉伯人群中半乳糖血症的发病率及特征

J Inherit Metab Dis. 1996;19(3):331-4. doi: 10.1007/BF01799263.

Newborn screening for hereditary metabolic disorders in Manitoba, 1965-1970.1965 - 1970年曼尼托巴省遗传性代谢疾病的新生儿筛查。

Can Med Assoc J. 1971 Jun 19;104(12):1085-8.

Problems affecting the community. Population screening.影响社区的问题。人群筛查。

J Clin Pathol Suppl (R Coll Pathol). 1974;8:145-9.

Experience of routine live-birth screening for galactosaemia in a British hospital, with emphasis on heterozygote detection.一家英国医院进行半乳糖血症常规活产筛查的经验，重点在于杂合子检测。

Arch Dis Child. 1972 Feb;47(251):34-40. doi: 10.1136/adc.47.251.34.

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.

Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn.新生儿中血清生物素酶完全和部分缺乏症的前瞻性确诊

J Inherit Metab Dis. 1989;12(2):131-8. doi: 10.1007/BF01800715.

Diagnosis of classical galactosaemia.经典型半乳糖血症的诊断

Arch Dis Child. 1977 Dec;52(12):943-6. doi: 10.1136/adc.52.12.943.

Human erythrocyte galactokinase and galactose-1-phosphate uridylyltransferase: a population survey.人红细胞半乳糖激酶和1-磷酸半乳糖尿苷酰转移酶：一项群体调查

Am J Hum Genet. 1975 Nov;27(6):737-47.

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