Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure

por de Haan, Amber, Morel, Chantal F, Eijgelsheim, Mark, de Jong, Margriet F C, Broekroelofs, Jan, Vogt, Liffert, Knoers, Nine V A M, de Borst, Martin H
Publicado 2022