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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

1
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。
Eur J Pediatr. 1985 Jul;144(2):209-10. doi: 10.1007/BF00451920.
2
The antenatal diagnosis and aid to the management of hereditary tyrosinaemia by use of a specific and sensitive GC-MS assay for succinylacetone.
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3
Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia.
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4
The stable isotope dilution method for measurement of methylmalonic acid: a highly accurate approach to the prenatal diagnosis of methylmalonic acidemia.用于测量甲基丙二酸的稳定同位素稀释法：一种用于甲基丙二酸血症产前诊断的高度准确的方法。
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A case of tyrosinaemia type I with normal level of succinylacetone in the amniotic fluid.
Prenat Diagn. 1996 Mar;16(3):239-42. doi: 10.1002/(SICI)1097-0223(199603)16:3<239::AID-PD829>3.0.CO;2-W.
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Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.
Eur J Pediatr. 1986 Apr;144(6):597-8. doi: 10.1007/BF00496047.
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Neonatal and prenatal diagnosis of hereditary tyrosinaemia.遗传性酪氨酸血症的新生儿及产前诊断
Lancet. 1983 Jun 4;1(8336):1279. doi: 10.1016/s0140-6736(83)92731-9.
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Prenatal diagnosis of type I hereditary tyrosinaemia.I型遗传性酪氨酸血症的产前诊断
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Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1.用于1型遗传性酪氨酸血症产前诊断的突变分析
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Prenatal diagnosis of propionic and methylmalonic acidaemia by stable isotope dilution analysis of amniotic fluid.通过羊水的稳定同位素稀释分析对丙酸血症和甲基丙二酸血症进行产前诊断。
J Inherit Metab Dis. 1989;12 Suppl 2:271-3. doi: 10.1007/BF03335395.

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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
Indian J Clin Biochem. 2022 Jan;37(1):40-50. doi: 10.1007/s12291-020-00944-z. Epub 2021 Jan 6.
2
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
Eur J Pediatr. 1993 Apr;152(4):327-30. doi: 10.1007/BF01956746.
3
Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.

本文引用的文献

1
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.
2
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.
3
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.
Eur J Pediatr. 1986 Apr;144(6):597-8. doi: 10.1007/BF00496047.
4
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.
5
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.
6
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.
7
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.
8
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.