Now showing items 1-1 of 1

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

      Ullah, M. I.; Nasir, A.; Ahmad, A.; Harlalka, Gaurav V.; Ahmad, W.; Hassan, M. J.; Baple, E. L.; Crosby, Andrew; Chioza, B. A. (BioMed Central, 2018-02-20)
      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, ...