利用稳定同位素稀释质谱法进行Ⅰ型酪氨酸血症的产前诊断。 - Suppr

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Prenatal diagnosis of tyrosinaemia type I by use of stable isotope dilution mass spectrometry.

作者信息

Jakobs C, Kvittingen E A, Berger R, Haagen A, Kleijer W, Niermeijer M

出版信息

Eur J Pediatr. 1985 Jul;144(2):209-10. doi: 10.1007/BF00451920.

DOI:10.1007/BF00451920

PMID:4043138

Abstract

摘要

相似文献

Prenatal diagnosis of tyrosinaemia type I by use of stable isotope dilution mass spectrometry.利用稳定同位素稀释质谱法进行Ⅰ型酪氨酸血症的产前诊断。

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Development of Flow Injection Analysis Method for the Second-Tier Estimation of Succinylacetone in Dried Blood Spot of Newborn Screening.新生儿筛查干血斑中琥珀酰丙酮二级估算的流动注射分析法的开发

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Clinical features and diagnostic approach in type I tyrosinaemia in an infant with cytomegaly virus infection and bacterial sepsis.一名患有巨细胞病毒感染和细菌性败血症的婴儿的I型酪氨酸血症的临床特征及诊断方法

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Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.

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本文引用的文献

Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia.

Clin Chim Acta. 1981 Jul 18;114(1):37-44. doi: 10.1016/0009-8981(81)90225-4.

Prenatal diagnosis of hereditary tyrosinaemia confirmed.遗传性酪氨酸血症产前诊断得到证实。

Prenat Diagn. 1982 Oct;2(4):323. doi: 10.1002/pd.1970020414.

Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid.遗传性酪氨酸血症的产前诊断：羊水琥珀酰丙酮的测定

Prenat Diagn. 1982 Jul;2(3):185-8. doi: 10.1002/pd.1970020307.

Prenatal diagnosis of hereditary tyrosinemia.遗传性酪氨酸血症的产前诊断

N Engl J Med. 1984 Mar 29;310(13):855-6. doi: 10.1056/NEJM198403293101315.

Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia.遗传性酪氨酸血症酶缺乏的生化研究。

Clin Chim Acta. 1983 Oct 31;134(1-2):129-41. doi: 10.1016/0009-8981(83)90191-2.

Chemical analysis of succinylacetone and 4-hydroxyphenyllactate in amniotic fluid using selective ion monitoring.

Prenat Diagn. 1984 May-Jun;4(3):187-94. doi: 10.1002/pd.1970040305.

The antenatal diagnosis and aid to the management of hereditary tyrosinaemia by use of a specific and sensitive GC-MS assay for succinylacetone.

J Inherit Metab Dis. 1984;7 Suppl 2:135-6. doi: 10.1007/978-94-009-5612-4_42.

Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells.通过测定培养羊水细胞中的富马酰乙酰乙酸酶进行遗传性酪氨酸血症的产前诊断。

Pediatr Res. 1985 Apr;19(4):334-7. doi: 10.1203/00006450-198519040-00002.

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