孕早期产前排除戊二酰辅酶A脱氢酶缺乏症（1型戊二酸尿症）。 - Suppr

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超能文献

First trimester prenatal exclusion of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type 1).

作者信息

Christensen E

机构信息

University Department of Paediatrics, Rigshospitalet, Copenhagen, Denmark.

出版信息

J Inherit Metab Dis. 1989;12 Suppl 2:277-9. doi: 10.1007/BF03335397.

DOI:10.1007/BF03335397

PMID:2512425

Abstract

摘要

相似文献

First trimester prenatal exclusion of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type 1).孕早期产前排除戊二酰辅酶A脱氢酶缺乏症（1型戊二酸尿症）。

J Inherit Metab Dis. 1989;12 Suppl 2:277-9. doi: 10.1007/BF03335397.

Early prenatal diagnosis in two pregnancies at risk for glutaryl-CoA dehydrogenase deficiency.两例存在戊二酰辅酶A脱氢酶缺乏风险的妊娠的早期产前诊断。

J Inherit Metab Dis. 1989;12 Suppl 2:280-2. doi: 10.1007/BF03335398.

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.一名戊二酰辅酶A脱氢酶基因E365K纯合子患者尽管早期接受了治疗仍发生急性脑病。

J Pediatr. 2001 Feb;138(2):277-9. doi: 10.1067/mpd.2001.110303.

Glutaric aciduria type I presenting with hypoglycaemia.

J Inherit Metab Dis. 1984;7(3):122-4. doi: 10.1007/BF01801769.

Prenatal diagnosis of glutaric acidemias.

Prenat Diagn. 2001 Dec;21(13):1167-8. doi: 10.1002/pd.201.

[Aciduria, glutaric (type 1)].

Ryoikibetsu Shokogun Shirizu. 2001(33):106-7.

[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.

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.

Severe clinical course with recurrent hyperpyrexia in a patient with glutaric aciduria type I.

Neuropediatrics. 1999 Feb;30(1):51-2. doi: 10.1055/s-2007-973460.

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.

引用本文的文献

Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: glutaric aciduria type 1.巨头畸形、肌张力障碍与双侧颞叶蛛网膜囊肿：1型戊二酸尿症

Childs Nerv Syst. 1994 Apr;10(3):198-203. doi: 10.1007/BF00301092.

本文引用的文献

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.

Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I.培养细胞和肝脏中戊二酰辅酶A脱氢酶检测方法的改进：应用于I型戊二酸尿症

Clin Chim Acta. 1983 Mar 28;129(1):91-7. doi: 10.1016/0009-8981(83)90155-9.

Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features.

Neurology. 1987 Oct;37(10):1654-7. doi: 10.1212/wnl.37.10.1654.

Glutaric aciduria; a "new" disorder of amino acid metabolism.戊二酸尿症；一种氨基酸代谢的“新”紊乱症。

Biochem Med. 1975 Jan;12(1):12-21. doi: 10.1016/0006-2944(75)90091-5.

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