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L-2-hydroxyglutaric aciduria – review of literature and case series

L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive, slowly progressive neurodegenerative disease characterized by psychomotor delay and cerebellar dysfunction. The biochemical hallmark is increased concentrations of L2HG in body fluids. Brain MRI exhibits characteristic centripetal exten...

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Detalles Bibliográficos
Autores principales:	Ahmed, Sibtain, Siddiqui, Ayra, DeBerardinis, Ralph J., Ni, Min, Gu Lai, Wen, Cai, Feng, Vu, Hieu S., Afroze, Bushra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2023
Materias:	Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129278/ https://www.ncbi.nlm.nih.gov/pubmed/37113859 http://dx.doi.org/10.1097/MS9.0000000000000326

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