Heart failure (HF) is a progressive chronic disease that remains a primary cause of death
worldwide, affecting over 64 million patients. HF can be caused by cardiomyopathies and …

Gaucher disease is an inherited metabolic disorder resulting in deficiency of lysosomal
enzyme β-glucocerebrosidase causing the accumulation of abnormal macrophages …

Résumé La maladie de Gaucher est une maladie génétique rare à transmission
autosomique récessive, due à un déficit enzymatique en glucocérébrosidase entraînant une …

Background Gaucher disease (GD) is a lysosomal storage disease that leads to the
accumulation of glucocerebroside within reticuloendothelial cells, haematological …

The identification of rare diseases with cardiovascular involvement poses significant
diagnostic challenges due to the rarity of the diseases, but also due to the lack of knowledge …

Gaucher disease (GD), one of the most common lysosomal disorders, is characterised by
clinical heterogeneity. Cardiac involvement is rare and refers to pulmonary hypertension …

Background Understanding the basis of the phenotypic variation in Gaucher's disease (GD)
has proven to be challenging for efficient treatment. The current study examined …

Gaucher disease (GD), the most common lysosomal storage disorder, is a multisystem
condition resulting from autosomal recessive mutations in the gene encoding …

Uvod: Gošeova bolest je oboljenje lizozoma kod kojeg je korelacija između genotipa i
fenotipske ekspresije bolesti slaba te se samim tim ni težina bolesti ne može pouzdano …