The human skeleton acts as a dynamic organ that undergoes continuous remodeling throughout an individual’s life in response to various environmental stimuli [ 1 ]. Bone remodeling occurs through the coordinated activity of osteoclasts that break …

Gaucher disease (GD) is a rare, autosomal recessively inherited, lysosomal storage disorder with a worldwide prevalence of 0.7 to 1.75 per 100,000 [ 1 ]. In Japan, the prevalence is estimated to be 1 in 330,000 [ 2 ], and a total of 211 patients …

Lysosomal Storage Diseases (LSDs) are a family of genetic diseases characterized by the pathologic accumulation of sphingolipids in lysosomes, leading to multisystemic and progressive organ dysfunction.

Neuronopathic Gaucher disease (nGD) is a rare disease occurring in between 0.17 and 0.55 per 100,000 live births [ 1 ]. The nGD type 2 (GD2) and type 3 (GD3) forms of this autosomal recessive lysosomal storage disorder are distinguished from the …

Gaucher disease (GD) (MIM#230800; #230900; #231000) is an autosomal recessive inherited disorder caused by a functional defect in the enzyme acid glucocerebrosidase (GluCer) (EC3.2.1.45) induced by pathogenic variants in the GBA1 gene (MIM*606463).

Gaucher disease is a rare, autosomal recessive genetic disorder. It is caused by a lack of sufficient activity of the lysosomal enzyme known as glucocerebrosidase, which leads to an accumulation of glucocerebroside, a fatty substance, in the …

Gaucher disease (GD) is a rare, inherited, autosomal recessive, lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase (GBA) (also known as glucosylceramidase and glucocerebrosidase). GBA cleaves …

According to the most recent classification of inherited metabolic disorders [ 1 ], Gaucher disease (GD) is an inborn error of metabolism with an autosomal recessive inheritance that belongs to the sub-category of the Lysosomal Storage Disorders …

Gaucher disease (GD) is an autosomal recessive disorder with a mutation in the glucosylceramidase beta 1 ( GBA1 ) gene, which encodes the lysosomal enzyme glucocerebrosidase [ 1 ]. GD is considered the most common lysosomal storage disorder [ 2 ].

Gaucher disease (GD) is a rare, autosomal recessive genetic disorder. The incidence of GD ranged from 0.70 to 1.75 per 100,000, but it could reach 118 per 100,000 in the Ashkenazi Jewish population [ 1 , 2 ]. It is caused by deficiency of the …

Among the more than 70 types of lysosomal storage disorders (LSDs) identified to date, Gaucher disease (GD; MIM 230800, 230900, and 231000 for types 1, 2, and 3, respectively) is one of the most common types [ 1 – 3 ]. It is an autosomal recessive …

Gaucher disease (GD) is a rare autosomal recessive genetic disorder caused by a pathogenic variation in the GBA1 gene [ 1 ]. GD is the most common lysosomal storage disorder with an estimated incidence of around 1 in 40,000–60,000 individuals in …

Gaucher disease (GD, OMIM #230800) is an inborn error of metabolism caused by a deficiency of the lysosomal enzyme beta-glucocerebrosidase (GCase), which is encoded by the gene GBA . The prevalence of GD ranges from 0.70 to 1.75 per 100,000 …