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Chromatographic screening of 70,328 neonates for inborn errors of amino acid metabolism.

作者信息

Méhes K, Juhász E, Ruszinkó V

出版信息

Acta Paediatr Hung. 1985;26(2):147-9.

PMID:4041281
Abstract

Between the years 1974 and 1984, amino acid chromatography was performed from dried blood spots and partly from urine of 70 328 neonates. Six cases of phenylketonuria, one histidinaemia, one hyperglycinaemia and three cystinurias were found. Since all these could have been detected by other methods, the regional screening was discontinued in agreement with international recommendations.

摘要

相似文献

1
Chromatographic screening of 70,328 neonates for inborn errors of amino acid metabolism.
Acta Paediatr Hung. 1985;26(2):147-9.
2
[Newborn mass-screening programme for histidinaemia: increased efficiency through selective thin-layer chromatography (author's transl)].新生儿组氨酸血症群体筛查计划:通过选择性薄层色谱法提高效率(作者译)
Wien Klin Wochenschr. 1977 May 13;89(10):353-5.
3
[Mass screening for histidinaemia:rationalization by selective thin layer chromatography. First results].[组氨酸血症的大规模筛查:通过选择性薄层色谱法进行合理化。初步结果]
Monatsschr Kinderheilkd (1902). 1976 Sep;129(9):639-42.
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J Inherit Metab Dis. 1994;17(2):230-3. doi: 10.1007/BF00711623.
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Histidinaemia in Sweden. Report on a neonatal screening programme.瑞典的组氨酸血症。一项新生儿筛查项目的报告。
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[Areas of applicability of thin-layer chromatography. Practical mass screening; data on intestinal mucosa lesions].[薄层色谱法的适用领域。实际大规模筛查;肠道黏膜病变数据]
Padiatr Padol. 1983;18(2):105-11.
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[Routine screening for inborn errors using urine filterpaper specimens at age 4-5 weeks (author's transl)].4至5周龄时使用尿滤纸标本对先天性代谢缺陷进行常规筛查(作者译)
Padiatr Padol. 1976;11(1):319-25.
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Screening for hyperaminoacidemias in newborns by thin-layer chromatography on DEAE-cellulose.采用DEAE-纤维素薄层层析法筛查新生儿高氨基酸血症。
Acta Paediatr Belg. 1973;27(5):334-47.
9
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Ion-exchange thin-layer chromatographic screening test for phenylketonuria and other aminoacidaemias.苯丙酮尿症及其他氨基酸血症的离子交换薄层色谱筛查试验
Acta Paediatr Acad Sci Hung. 1973;14(3):165-9.

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