A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

BACKGROUND: L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder that occurs due to accumulation of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF), plasma and urine. The clinical manifestation of L2HGA includes intellectual disability, cerebellar ataxia, epilepsy, speech...

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Detalles Bibliográficos
Autores principales: Muzammal, Muhammad, Ali, Muhammad Zeeshan, Brugger, Beatrice, Blatterer, Jasmin, Ahmad, Safeer, Taj, Sundas, Shah, Syed Khizar, Khan, Saadullah, Enzinger, Christian, Petek, Erwin, Wagner, Klaus, Khan, Muzammil Ahmad, Windpassinger, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8748340/
https://www.ncbi.nlm.nih.gov/pubmed/34719772
http://dx.doi.org/10.1007/s11011-021-00832-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8748340/
https://www.ncbi.nlm.nih.gov/pubmed/34719772
http://dx.doi.org/10.1007/s11011-021-00832-2

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