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

作者信息

Pettit B R, MacKenzie F, King G S, Leonard J V

出版信息

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

DOI:10.1007/978-94-009-5612-4_42
PMID:6434868
Abstract
摘要

相似文献

1
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.
2
First-trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination.通过羊水琥珀酰丙酮测定进行孕早期Ⅰ型酪氨酸血症的产前诊断。
Prenat Diagn. 1990 Feb;10(2):133-4. doi: 10.1002/pd.1970100210.
3
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.
4
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.
5
Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I.
Clin Chim Acta. 1988 Feb 15;171(2-3):223-31. doi: 10.1016/0009-8981(88)90147-7.
6
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.
7
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.
8
Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid.一例羊水琥珀酰丙酮水平正常的I型酪氨酸血症的基因分型
Prenat Diagn. 1999 Jan;19(1):61-3. doi: 10.1002/(sici)1097-0223(199901)19:1<61::aid-pd455>3.0.co;2-#.
9
Early prenatal diagnosis of hereditary tyrosinaemia.遗传性酪氨酸血症的早期产前诊断
Lancet. 1985 May 4;1(8436):1038. doi: 10.1016/s0140-6736(85)91633-2.
10
Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia.琥珀酰丙酮的检测及其在遗传性酪氨酸血症大规模筛查中的测量应用。
Clin Chim Acta. 1982 Aug 4;123(1-2):93-9. doi: 10.1016/0009-8981(82)90117-6.

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1
mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model.在小鼠模型中，基于信使核糖核酸的疗法在治疗1型遗传性酪氨酸血症方面被证明优于标准治疗。
Mol Ther Methods Clin Dev. 2022 Jul 15;26:294-308. doi: 10.1016/j.omtm.2022.07.006. eCollection 2022 Sep 8.
2
Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.小鼠延胡索酰乙酰乙酸水解酶基因中的点突变：人类遗传性1型酪氨酸血症遗传疾病的动物模型。
Proc Natl Acad Sci U S A. 2001 Jan 16;98(2):641-5. doi: 10.1073/pnas.98.2.641.
3
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.