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Toplam kayıt 2, listelenen: 1-2
Rapid Determination of L-2-Hydoxyglutaric Acid in Urine Samples By Capillary Electrophoresis with Indirect Uv Detection
(2020)
Aim: L-2-hydroxyglutaric aciduria (L2HGA) which is autosomal recessive and characterized by psychomotor retardation, cerebellarataxia, variable macrocephaly, and epilepsy is a rarely seen neurometabolic disease. The disease ...
Altered immune response in organic acidemia
(Wiley, 2022)
Background Most patients with organic acidemia suffer from recurrent infections. Although neutropenia has been reported in multiple studies, other components of the immune system have not been evaluated thoroughly. This ...