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

BACKGROUND: 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 c...

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Dades bibliogràfiques
Publicat a:BMC Med Genet
Autors principals: Ullah, Muhammad Ikram, Nasir, Abdul, Ahmad, Arsalan, Harlalka, Gaurav Vijay, Ahmad, Wasim, Hassan, Muhammad Jawad, Baple, Emma L., Crosby, Andrew H., Chioza, Barry A.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5819255/
https://ncbi.nlm.nih.gov/pubmed/29458334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0532-x
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