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1965 - 1970年曼尼托巴省遗传性代谢疾病的新生儿筛查。

Newborn screening for hereditary metabolic disorders in Manitoba, 1965-1970.

作者信息

Fox J G, Hall D L, Haworth J C, Maniar A, Sekla L

出版信息

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

Abstract

The newborn screening program for hereditary metabolic disorders in Manitoba is reviewed. In 1965, screening was begun on infants born in Metropolitan Winnipeg, and since January 1966 screening has been provincewide. Bloods from 85,868 infants have been screened so far. For the past two-and-a-half years 98.5% of live-born infants surviving the first seven days of life have been screened.The Guthrie bacterial inhibition test was used initially. In 1966 an evaluation was undertaken of one-dimensional amino-acid paper chromatography, and in 1969 this method replaced the Guthrie test. Five cases of phenylketonuria have been identified, and incidence of 1:17, 174. Screening for abnormal sugars in the blood has disclosed two cases of galactosemia. The incidence of galactosemia in the province is 1 in 16,069 live births.

摘要

对曼尼托巴省遗传性代谢疾病的新生儿筛查项目进行了回顾。1965年,在温尼伯市大都会区出生的婴儿中开始筛查,自1966年1月起在全省范围内开展筛查。到目前为止,已对85868名婴儿的血液进行了筛查。在过去的两年半时间里,98.5%存活至出生后七天的活产婴儿接受了筛查。最初使用的是格思里细菌抑制试验。1966年对一维氨基酸纸色谱法进行了评估,1969年该方法取代了格思里试验。已确诊5例苯丙酮尿症,发病率为1:17174。血液中异常糖分的筛查发现了2例半乳糖血症。该省半乳糖血症的发病率为每16069例活产中有1例。

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本文引用的文献

1
THE PLASMA TYROSINE LEVELS OF PREMATURE BABIES.早产儿的血浆酪氨酸水平。
Arch Dis Child. 1964 Aug;39(206):371-8. doi: 10.1136/adc.39.206.371.
4
Tyrosinaemia and tyrosyluria in infancy.
Dev Med Child Neurol. 1967 Oct;9(5):551-62. doi: 10.1111/j.1469-8749.1967.tb02324.x.
6
Aminoacidemia of prematurity. Its response to ascorbic acid.早产氨基酸血症。其对抗坏血酸的反应。
Am J Dis Child. 1966 Sep;112(3):229-36. doi: 10.1001/archpedi.1966.02090120097010.
8
Transient tyrosinemia in full-term infants.
JAMA. 1969 Jul 14;209(2):249-50.
9
A prospective community survey for aminoacidaemias.一项关于氨基酸血症的前瞻性社区调查。
Proc R Soc Med. 1968 Mar;61(3):294-6. doi: 10.1177/003591576806100341.

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