Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.

作者信息

Hoffmann G F, Böhles H J, Burlina A, Duran M, Herwig J, Lehnert W, Leonard J V, Muntau A, Plecko-Starting F K, Superti-Furga A

机构信息

Department of Pediatrics, University of Marburg, Germany.

出版信息

J Inherit Metab Dis. 1995;18(2):173-6. doi: 10.1007/BF00711759.

DOI:10.1007/BF00711759

PMID:7564239

Abstract

摘要

相似文献

Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.

J Inherit Metab Dis. 1995;18(2):173-6. doi: 10.1007/BF00711759.

Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.

Neuropediatrics. 1996 Jun;27(3):115-23. doi: 10.1055/s-2007-973761.

[Development of brain atrophy, therapy and therapy monitoring in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)].

Klin Padiatr. 1993 Jan-Feb;205(1):23-9. doi: 10.1055/s-2007-1025192.

[Inborn errors of GABA metabolism].

Arch Pediatr. 1996;3 Suppl 1:169s-171s. doi: 10.1016/0929-693x(96)86030-1.

[Glutaric aciduria type I: an organic acidemia without acidosis with severe movement disorders].

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

3-Hydroxyglutarate excretion is increased in ketotic patients: implications for glutaryl-CoA dehydrogenase deficiency testing.

J Inherit Metab Dis. 2002 May;25(2):83-8. doi: 10.1023/a:1015654608166.

Early prenatal diagnosis in two pregnancies at risk for glutaryl-CoA dehydrogenase deficiency.

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

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.

[Glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)].

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

A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: application in the genotyping of the glutaryl-CoA dehydrogenase locus.

Clin Chim Acta. 1993 Oct 29;220(1):71-80. doi: 10.1016/0009-8981(93)90007-q.

引用本文的文献

Siblings with Glutaric Aciduria Type 1 with Atypical Phenotype with Novel Pathogenic Variant in GCDH Gene.

J Pediatr Neurosci. 2021 Jan-Mar;16(1):75-78. doi: 10.4103/jpn.JPN_63_20. Epub 2021 Jun 25.

Clinical and Mutational Analysis of the Gene in Malaysian Patients with Glutaric Aciduria Type 1.

Biomed Res Int. 2016;2016:4074365. doi: 10.1155/2016/4074365. Epub 2016 Sep 8.

Recurrent rhabdomyolysis in a child with glutaric aciduria type I.

J Inherit Metab Dis. 1999 Jun;22(5):663-4. doi: 10.1023/a:1005542400135.

本文引用的文献

Chronic subdural hematoma, as an initial manifestation of glutaric aciduria type-1.

Brain Dev. 1993 Mar-Apr;15(2):125-7. doi: 10.1016/0387-7604(93)90049-e.

Subdural hematoma and glutaric aciduria type 1.

Brain Dev. 1993 Nov-Dec;15(6):460-1. doi: 10.1016/0387-7604(93)90089-q.

Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.

Mov Disord. 1994 Jan;9(1):22-30. doi: 10.1002/mds.870090105.

Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds.

J Pediatr. 1989 Jun;114(6):983-9. doi: 10.1016/s0022-3476(89)80442-1.

Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds.

J Pediatr. 1991 Jan;118(1):52-8. doi: 10.1016/s0022-3476(05)81843-8.

Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy.

Pediatrics. 1991 Dec;88(6):1194-203.

Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.

Am J Med Genet. 1991 Oct 1;41(1):89-95. doi: 10.1002/ajmg.1320410122.

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