Article
Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies.
Orphanet journal of rare diseases - 28 Apr 2026
Vinci Martina, Giacomarra Miriam, D'Errico Annalisa, Fischetto Rita, Palumbo Giovanna, Tartaglione Immacolata, Tirelli Paolo, Messina Elisa, Russo Maria, Francofonte Daniele, Colomba Paolo, Duro Giovanni, Zizzo Carmela
Abstract excerpt
Gaucher Disease (GD) is an inherited metabolic disorder caused by mutations in the GBA1 gene, which is responsible for the synthesis of the enzyme glucocerebrosidase (GCase). The clinical manifestations, which are extremely heterogeneous, include splenomegaly, hepatomegaly, anaemia and bone complications. GD is an autosomal recessive condition, meaning that the clinical phenotype manifests itself only in the...
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