Abstract Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive
disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes …

Abstract Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage
disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical …

The aim of this study was to obtain data about the epidemiology of the different types of
mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from …

Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid
metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic …

Niemann–Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by
mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases) …

Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a
lysosomal enzyme deficiency or malfunction, which leads to the accumulation of …

Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease
and cardiovascular disease. The availability of specific but costly therapy has elevated the …

Objectives: The objectives of this research were:(1) to heighten awareness of Gaucher
disease (GD), a rare lysosomal storage disorder with highly heterogeneous patterns of …

Summary Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal
recessive disorder, caused by a deficiency in one of the four enzymes involved in the …

Abstract Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with
progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading …