Prenatal diagnosis of argininosuccinicaciduria by analysis of cultured chorionic villi.
作者信息
Vimal C M, Fensom A H, Heaton D, Ward R H, Garrod P, Penketh R J
出版信息
Lancet. 1984 Sep 1;2(8401):521-2. doi: 10.1016/s0140-6736(84)92598-4.
PMID:6147579
Abstract
摘要
相似文献
1
Prenatal diagnosis of argininosuccinicaciduria by analysis of cultured chorionic villi.通过培养绒毛膜绒毛分析进行精氨琥珀酸尿症的产前诊断。
Lancet. 1984 Sep 1;2(8401):521-2. doi: 10.1016/s0140-6736(84)92598-4.
2
Pitfalls in the prenatal diagnosis of argininosuccinuria.精氨琥珀酸尿症产前诊断中的陷阱
Am J Med Genet. 1988 Aug;30(4):999-1000. doi: 10.1002/ajmg.1320300426.
3
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.
4
Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.通过直接检测丙酰辅酶A羧化酶对绒毛膜绒毛进行丙酸血症的产前诊断。
Prenat Diagn. 1988 Feb;8(2):161-4. doi: 10.1002/pd.1970080211.
5
Trichorrhexis nodosa secondary to argininosuccinicaciduria.精氨琥珀酸尿症继发结节性脆发症。
Pediatr Dermatol. 2007 Jan-Feb;24(1):25-7. doi: 10.1111/j.1525-1470.2007.00327.x.
6
Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid.通过同时采集绒毛膜绒毛和羊水进行丙酸血症的早期产前诊断。
J Inherit Metab Dis. 1990;13(3):345-8. doi: 10.1007/BF01799391.
7
Measurement of 3-hydroxy-3-methylglutaryl-CoA lyase activity in amniotic cells and in chorionic villi.
Prenat Diagn. 1988 Nov;8(9):691. doi: 10.1002/pd.1970080911.
8
Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria".精氨琥珀酸尿症和“母体高胱氨酸尿症”中的胎儿组织氨基酸浓度。
Clin Chim Acta. 1979 Jun 1;94(2):101-8. doi: 10.1016/0009-8981(79)90001-9.
9
First trimester diagnosis of Hunter syndrome on chorionic villi.孕早期通过绒毛膜绒毛诊断亨特综合征。
Lancet. 1984 Aug 25;2(8400):472. doi: 10.1016/s0140-6736(84)92952-0.
10
Argininosuccinic aciduria--an underdiagnosed cause of neonatal death?精氨酸琥珀酸尿症——新生儿死亡的一个诊断不足的原因？
Scott Med J. 1989 Feb;34(1):408-9. doi: 10.1177/003693308903400111.
引用本文的文献
1
Chorionic villus sampling: diagnostic uses and limitations of enzyme assays.绒毛取样：酶测定的诊断用途及局限性
J Inherit Metab Dis. 1989;12 Suppl 1:105-17. doi: 10.1007/BF01799290.
2
First trimester diagnosis of inherited metabolic disease: experience in the UK.孕早期遗传性代谢疾病的诊断：英国的经验
J Inherit Metab Dis. 1991;14(2):128-33. doi: 10.1007/BF01800583.
Zotero 插件