Assessment of liver and spleen stiffness and hepatic steatosis by transient elastography (Fibroscan®) in type 1 Gaucher disease: a single center case–control cohort study

Abstract Introduction Gaucher disease (GD) is a lysosomal storage disorder characterized by glucosylceramide accumulation, which may lead to liver fibrosis and cirrhosis. Enzyme replacement therapy (ERT) could reverse fibrosis. This study aimed to assess liver and spleen stiffness and hepatic steato...

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Principais autores:	Ummu Mutlu, Bilger Cavus, Hulya Hacisahinogullari, Gulsah Yenidunya Yalin, Ozlem Soyluk Selcukbiricik, Nurdan Gul, Ayse Kubat Uzum, Kadir Demir, Refik Tanakol
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2026-01-01
Serija:	Orphanet Journal of Rare Diseases
Online dostop:	https://doi.org/10.1186/s13023-025-03847-5
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