Journal of clinical medicine
A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil.
Roberto Giugliani, Ana Cecília Menezes de Siqueira, Ana Maria Martins, Bianca Fernandes Marcondes, Carolina Fischinger Moura de Souza, Dafne Dain Gandelman Horovitz, Emília Katiane Embiruçu Leão, Gaelle Gusto, Gerson da Silva Carvalho, Osvaldo Artigalás, Raquel Boy, Rodrigo Rosa de Stefani, Neeraj Singh Rawat, Gerasimos Konidaris
Published: 202610.3390/jcm15020589
Abstract
Background: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive lysosomal storage disease with heterogeneous clinical manifestations. Evidence on the disease burden of ASMD is limited in Brazil. Methods: This observational, multicenter, re…
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