Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620642
Title:
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.
Authors:
Ullah, M. I.; Nasir, A.; Ahmad, A.; Harlalka, Gaurav V.; Ahmad, W.; Hassan, M. J.; Baple, E. L.; Crosby, Andrew; Chioza, B. A.
Abstract:
L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental delay, intellectual disability, and other clinical neurological deficits.
Citation:
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. 2018, 19 (1):25 BMC Med. Genet.
Publisher:
BioMed Central
Journal:
BMC medical genetics
Issue Date:
20-Feb-2018
URI:
http://hdl.handle.net/11287/620642
DOI:
10.1186/s12881-018-0532-x
PubMed ID:
29458334
Additional Links:
https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-018-0532-x
Note:
This article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.
Type:
Case Report
Language:
en
ISSN:
1471-2350
Appears in Collections:
Honorary contracts publications; 2018 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorUllah, M. I.en
dc.contributor.authorNasir, A.en
dc.contributor.authorAhmad, A.en
dc.contributor.authorHarlalka, Gaurav V.en
dc.contributor.authorAhmad, W.en
dc.contributor.authorHassan, M. J.en
dc.contributor.authorBaple, E. L.en
dc.contributor.authorCrosby, Andrewen
dc.contributor.authorChioza, B. A.en
dc.date.accessioned2018-03-21T11:28:32Z-
dc.date.available2018-03-21T11:28:32Z-
dc.date.issued2018-02-20-
dc.identifier.citationIdentification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. 2018, 19 (1):25 BMC Med. Genet.en
dc.identifier.issn1471-2350-
dc.identifier.pmid29458334-
dc.identifier.doi10.1186/s12881-018-0532-x-
dc.identifier.urihttp://hdl.handle.net/11287/620642-
dc.description.abstractL-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental delay, intellectual disability, and other clinical neurological deficits.en
dc.language.isoenen
dc.publisherBioMed Centralen
dc.relation.urlhttps://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-018-0532-xen
dc.rightsArchived with thanks to BMC medical geneticsen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleIdentification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.en
dc.typeCase Reporten
dc.identifier.journalBMC medical geneticsen
dc.description.noteThis article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.en
dc.type.versionPublisheden

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