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pro vyhledávání: '"Christian Benedetto"'
Autor:
Irene Motta, Dario Consonni, Marina Stroppiano, Christian Benedetto, Elena Cassinerio, Barbara Tappino, Paola Ranalli, Lorenza Borin, Luca Facchini, Andrea Patriarca, Wilma Barcellini, Federica Lanza, Mirella Filocamo, Maria Domenica Cappellini, Splenomegaly Gaucher group
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
Abstract Hematologists are frequently involved in the diagnostic pathway of Gaucher disease type 1 (GD1) patients since they present several hematological signs. However, GD1 is mainly underdiagnosed because of a lack of awareness. In this multicente
Externí odkaz:
https://doaj.org/article/b22675ddb7324d238338d5c54148d366
Autor:
Christian Benedetto, Paola Ranalli, Wilma Barcellini, Marina Stroppiano, Dario Consonni, Lorenza Borin, Maria Domenica Cappellini, Elena Cassinerio, Irene Motta
Publikováno v:
Blood. 136:17-18
Background:Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the deficiency of beta-glucosidase enzyme. Its prevalence in the non-Ashkenazy Jewish population is 1:40.000-100.000, whereas in Ashkenazy Jewish 1:500-1000.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f557433fcf202ec5bf5a88dc2a85c648
https://doi.org/10.1182/blood-2020-141527
https://doi.org/10.1182/blood-2020-141527