绒毛膜绒毛中I型戊二酸血症分子产前诊断的可行性 - Suppr

Suppr

超能文献

Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi.

作者信息

Busquets C, Coll M J, Christensen E, Campistol J, Clusellas N, Vilaseca M A, Ribes A

机构信息

Institut de Bioquímica Clínica, Corporació Sanitària, Barcelona, Spain.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):243-6. doi: 10.1023/a:1005359920675.

DOI:10.1023/a:1005359920675

PMID:9686367

Abstract

摘要

相似文献

Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi.绒毛膜绒毛中I型戊二酸血症分子产前诊断的可行性

J Inherit Metab Dis. 1998 Jun;21(3):243-6. doi: 10.1023/a:1005359920675.

Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I.两名日本I型戊二酸血症患者中戊二酰辅酶A脱氢酶基因的新突变

Am J Med Genet. 1998 Dec 4;80(4):327-9.

Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis.通过直接突变分析对I型戊二酸尿症进行产前分子诊断。

Prenat Diagn. 2000 Sep;20(9):761-4.

Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity.I型戊二酸尿症伴高残留戊二酰辅酶A脱氢酶活性

Dev Med Child Neurol. 1998 Dec;40(12):840-2. doi: 10.1111/j.1469-8749.1998.tb12362.x.

Significance of bound glutarate in the diagnosis of glutaric aciduria type I.

J Inherit Metab Dis. 1992;15(3):367-70. doi: 10.1007/BF02435978.

Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.表现为3-羟基戊二酸尿症的戊二酰辅酶A脱氢酶缺乏症

Mol Genet Metab. 1999 Mar;66(3):199-204. doi: 10.1006/mgme.1998.2794.

[Glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)].[戊二酰辅酶A脱氢酶缺乏症（I型戊二酸尿症）]

Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):332-5.

Glutaric aciduria type 1 in adulthood.成人型1型戊二酸血症

J Neurol Neurosurg Psychiatry. 1996 Mar;60(3):352-3. doi: 10.1136/jnnp.60.3.352.

The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.人类戊二酰辅酶A脱氢酶基因：内含子序列及导致I型戊二酸尿症的13种新突变的报告。

Hum Genet. 1998 Apr;102(4):452-8. doi: 10.1007/s004390050720.

[Glutaric aciduria type I: an organic acidemia without acidosis with severe movement disorders].[I型戊二酸血症：一种无酸中毒但伴有严重运动障碍的有机酸血症]

Neurologia. 2001 Oct;16(8):337-41.

引用本文的文献

Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches.基于羊水样本，采用遗传学和生物化学方法对42个家庭进行戊二酸血症I型的产前诊断。

Front Genet. 2020 May 20;11:496. doi: 10.3389/fgene.2020.00496. eCollection 2020.

本文引用的文献

Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.

J Inherit Metab Dis. 1997 Jul;20(3):383-6. doi: 10.1023/a:1005390214391.

Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.戊二酰辅酶A脱氢酶的基因结构与突变：A421V替代导致酶亚基结合受损，从而在阿米什人群中引发I型戊二酸血症。

Am J Hum Genet. 1996 Nov;59(5):1006-11.

Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency.7例西班牙戊二酰辅酶A脱氢酶缺乏症患者的临床和生化表现各异

Neuropediatrics. 1995 Oct;26(5):238-42. doi: 10.1055/s-2007-979763.

Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.戊二酰辅酶A脱氢酶cDNA的克隆以及野生型和突变型酶在大肠杆菌中的表达。

Hum Mol Genet. 1995 Sep;4(9):1493-8. doi: 10.1093/hmg/4.9.1493.

Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: experience using first-trimester chorionic villus sampling.戊二酰辅酶A脱氢酶缺乏症的产前诊断：孕早期绒毛取样的经验

Prenat Diagn. 1994 May;14(5):333-6. doi: 10.1002/pd.1970140503.

Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene.小鼠戊二酰辅酶A脱氢酶基因的克隆、结构及染色体定位

Genomics. 1995 Aug 10;28(3):508-12. doi: 10.1006/geno.1995.1182.

Antenatal diagnosis of glutaric acidemia.戊二酸血症的产前诊断

Am J Hum Genet. 1980 Sep;32(5):695-9.

Glutaric aciduria type I: unusual biochemical presentation.

J Pediatr. 1992 Jul;121(1):83-6. doi: 10.1016/s0022-3476(05)82548-x.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验