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 …

The lysosomal storage disorders (LSDs) are a group of genetic disorders resulting from
defective lysosomal metabolism and subsequent accumulation of substrates. Patients …

Background Lysosomal storage disorders (LSD) are a family of genetic diseases that have a
devastating impact on the patient and family with a concomitant health burden. Although …

Different approaches have been utilized or proposed for the treatment of lysosomal storage
disorders (LSDs) including enzyme replacement and hematopoietic stem cell transplant …

Abstract Background Morquio A (MPS IVA) is a rare disease characterised by a deficiency of
N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal …

Background Sanfilippo syndrome (mucopolysaccharidosis [MPS] III subtypes A, B, C, and D)
is a rare autosomal recessive inherited metabolic disorder that causes progressive …

Background Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal
storage disease caused by deficiency in arylsulfatase A (ASA) activity arising primarily from …

Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50
genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal …

Gaucher disease (GD) is mainly caused by glucocerebrosidase (GCase) enzyme deficiency
due to genetic variations in the GBA1 gene leading to the toxic accumulation of …

Aim There are more than 50 inherited lysosomal storage diseases (LSD s), and this study
examined the incidence of clinically diagnosed LSD s in Sweden. Methods The number of …