Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2023-0105
Abstract: Abstract Objectives Fabry disease is an X-linked lysosomal disorder caused by decreased or absent alpha galactosidase enzyme. The enzyme deficiency leads to progressive accumulation of globotriaosylceramide (Gb-3) and its deacetylated form lyso-Gb3 in various tissue… read more here.
Keywords: patients fabry; features patients; endocrinological immunological; metabolic features ... See more keywords