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 …

Rare diseases (RDs) are the clinical conditions affecting a few percentage of individuals in a
general population compared to other diseases. Limited clinical information and a lack of …

Mucopolysaccharidosis type I (MPS I) is a rare disorder caused by deleterious sequence
variants in the α‐L‐iduronidase (IDUA) gene. More than 200 pathogenic variants have been …

Background Mucopolysaccharidoses (MPS) are lysosomal storage diseases in which
mutations of genes encoding for lysosomal enzymes cause defects in the degradation of …

Mucopolysaccharidoses (MPS) are a subgroup of 11 monogenic lysosomal storage
disorders due to the deficit of activity of the lysosomal hydrolases deputed to the degradation …

Lysosomal storage disorders (LSDs) are a group of seventy different metabolic storage
diseases due to accumulation of substrate mainly in the form of carbohydrate, lipids …

Hunter syndrome (mucopolysaccharidosis II; MPS II) is caused by a defect of the iduronate-2-
sulfatase (IDS) gene. Few studies have reported integrated mutation data of Taiwanese …

With the expansion of newborn screening efforts for MPS disorders, the number of identified
variants of uncertain significance in IDUA continues to increase. To better define functional …

Background: Mucopolysaccharidosis II (MPS II) is an X-linked disorder resulting from a
deficiency in lysosomal enzyme iduronate-2-sulfatase (IDS), which causes the accumulation …

India has a large heterogeneous population with its unique social and genetic
characteristics. Tradition of marriage between specific caste groups have produced unique …