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pro vyhledávání: '"Jesus Alfredo Uribe-Ardila"'
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)
Abstract Fabry disease is a metabolic alteration linked to an enzymatic deficiency of Alpha-Galactosidase A, this disorder compromises the sphingolipid metabolism, leading to an accumulation of lysosomal globotriaosylceramide and is inherited in an X
Externí odkaz:
https://doaj.org/article/3126737943464dbaa96f598dea196087