Early Diagnosis of Gaucher Disease and ASMD in Sardinia: the “ICHNOS” Project

Mediterranean Journal of Hematology and Infectious Diseases 2026 Open access

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Authors: Daniela Perra, Carmela Zizzo, Olga Mulas, Luigi Podda, Francesco Longu, Claudio Fozza, Angelo Domenico Palmas, Luigi Curreli, Alessandro Costa, Maria Domenica Cappellini, Giovanni Caocci
DOI: 10.4084/mjhid.2026.016
Cited by: 1

Abstract

Background: Gaucher disease (GD) and Acid Sphingomyelinase Deficiency (ASMD) are rare, chronic, function progressive, and debilitating disorders caused by the altered lysosomal enzymes glucocerebrosidase (GCase) in GD and sphingomyelinase (ASM) in ASMD respectively. These pathologies share several clinical manifestations, and their real incidence is underestimated.

Fields of Study & Subjects

Lysosomal Storage Disorders Research Calcium signaling and nucleotide metabolism Biomedical Research and Pathophysiology

Publication details

Journal / source
Mediterranean Journal of Hematology and Infectious Diseases
Publisher
Hematology Section, Dept. of Radiological Science and Hematology, Catholic University, Rome, Italy
Volume
18
Issue
1
Pages
e2026016–e2026016
Publication date
1 January 2026
Language
EN