Improved method for the antenatal diagnosis of citrullinemia.
作者信息
Cathelineau L, Pham Dinh D, Boué J, Saudubray J M, Farriaux J P, Kamoun P
出版信息
Clin Chim Acta. 1981 Oct 8;116(1):111-5. doi: 10.1016/0009-8981(81)90175-3.
PMID:7318170
Abstract
摘要
相似文献
1
Improved method for the antenatal diagnosis of citrullinemia.瓜氨酸血症产前诊断的改进方法。
Clin Chim Acta. 1981 Oct 8;116(1):111-5. doi: 10.1016/0009-8981(81)90175-3.
2
Citrulline in amniotic fluid and the prenatal diagnosis of citrullinemia.羊水瓜氨酸与瓜氨酸血症的产前诊断
Prenat Diagn. 1983 Jan;3(1):53-6. doi: 10.1002/pd.1970030111.
3
Prenatal diagnosis of citrullinemia: elevated levels of citrulline in the amniotic fluid in the three affected pregnancies.瓜氨酸血症的产前诊断：三例受累妊娠羊水中瓜氨酸水平升高。
Prenat Diagn. 1984 Mar-Apr;4(2):113-8. doi: 10.1002/pd.1970040205.
4
Variation in argininosuccinate synthetase activity in amniotic fluid cell cultures: implications for prenatal diagnosis of citrullinemia.羊水细胞培养中精氨琥珀酸合成酶活性的变化：对瓜氨酸血症产前诊断的意义。
Clin Chim Acta. 1981 Oct 8;116(1):1-7. doi: 10.1016/0009-8981(81)90162-5.
5
Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.羊水氨基酸在精氨琥珀酸尿症和瓜氨酸血症产前检测中的应用。
Prenat Diagn. 1996 May;16(5):419-24. doi: 10.1002/(SICI)1097-0223(199605)16:5<419::AID-PD872>3.0.CO;2-7.
6
Exclusion of citrullinaemia in the first trimester of pregnancy by direct assay of argininosuccinate synthetase in chorionic villi.通过直接检测绒毛膜绒毛中的精氨琥珀酸合成酶在妊娠早期排除瓜氨酸血症。
Prenat Diagn. 1985 Jul-Aug;5(4):299-301. doi: 10.1002/pd.1970050410.
7
Citrullinemia: prenatal diagnosis of an affected fetus.瓜氨酸血症：患病胎儿的产前诊断
Am J Hum Genet. 1983 Jan;35(1):85-90.
8
Citrullinaemia: the possibility of prenatal diagnosis.瓜氨酸血症：产前诊断的可能性。
J Inherit Metab Dis. 1980;3(3):73-5. doi: 10.1007/BF02312528.
9
Prenatal diagnosis of pyruvate carboxylase deficiency.丙酮酸羧化酶缺乏症的产前诊断
Prenat Diagn. 1985 Jan-Feb;5(1):67-71. doi: 10.1002/pd.1970050112.
10
The human argininosuccinate synthetase locus and citrullinemia.人类精氨琥珀酸合成酶基因座与瓜氨酸血症
Adv Hum Genet. 1986;15:161-96, 291-2. doi: 10.1007/978-1-4615-8356-1_3.
引用本文的文献
1
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.精氨琥珀酸尿症一种生化变异型的临床、酶学及分子遗传学特征：五个无亲缘关系家庭的产前及产后诊断
J Inherit Metab Dis. 2002 Sep;25(5):399-410. doi: 10.1023/a:1020108002877.
2
Neuropathology of citrullinaemia.瓜氨酸血症的神经病理学
Acta Neuropathol. 1982;56(4):303-6. doi: 10.1007/BF00691263.
3
Citrullinemia: prenatal diagnosis of an affected fetus.瓜氨酸血症：患病胎儿的产前诊断
Am J Hum Genet. 1983 Jan;35(1):85-90.
4
Chronic vomiting in a case of citrullinaemia detected after treatment by total parenteral nutrition.在全胃肠外营养治疗后检测出的瓜氨酸血症病例中的慢性呕吐。
Gut. 1984 May;25(5):531-3. doi: 10.1136/gut.25.5.531.
Zotero 插件