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pro vyhledávání: '"Marco Tindaro Valentino Ragusa"'
Autor:
Gaetano Giuffrida, Uros Markovic, Annalisa Condorelli, Valeria Calafiore, Daniela Nicolosi, Marianna Calagna, Stephanie Grasso, Marco Tindaro Valentino Ragusa, Jennifer Gentile, Mariasanta Napolitano
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Gaucher disease (GD) is a rare, inherited, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is achieved via measurements of acid β-glucosidase activity in either fres
Externí odkaz:
https://doaj.org/article/ec6ba389d47e4667a7e39cb9ba5a2240