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Autor:
Débora, Junqueira, Ana M, Brusque, Lisiane O, Porciúncula, Liane N, Rotta, Céar A J, Ribeiro, Marcos E S, Frizzo, Carlos S, Dutra Filho, Clóvis M D, Wannmacher, Angela T S, Wyse, Diogo O, Souza, Moacir, Wajner
Publikováno v:
Metabolic brain disease. 18(3)
L-2-Hydroxyglutaric acid (LGA) accumulates and is the biochemical hallmark of the neurometabolic disorder L-2-hydroxyglutaric aciduria (LHGA). Although this disease is predominantly characterized by severe neurological findings and pronounced cerebra