Listar por tema "Methylmalonic acid"
Mostrando ítems 1-3 de 3
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Assessment of cellular cobalamin metabolism in Gaucher disease
(2020) [Artículo de periódico]Background: Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. ... -
Chronic postnatal administration of methylmalonic acid provokes a decrease of myelin content and ganglioside N-acetylneuramic acid concentration in cerebrum of young rats
(2001) [Artículo de periódico]Levels of methylmalonic acid (MMA) comparable to those of human methylmalonic acidemia were achieved in blood (2-2.5 mmol/l) and brain (1.35 µmol/g) of rats by administering buffered MMA, pH 7.4, subcutaneously twice a day ... -
Efeitos do ácido metilmalônico (MMA) sobre parâmetros astrogliais em células C6
(2022) [Tesis]A acidemia metilmalônica é uma doença neurometabólica bioquimicamente caracterizada pelo acúmulo do ácido metilmalônico (MMA) em diferentes tecidos, inclusive no sistema nervoso central (SNC). Os pacientes com este erro ...