Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles
Hunter in 1917. Since then, about one hundred years have passed and Hunter syndrome …

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the
deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive …

Abstract Background Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal
recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to …

Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder based on a mutation
in the IDS gene that encodes iduronate 2-sulphatase. As a result, there is an accumulation …

Background Current clinical diagnosis pathway for lysosomal storage disorders (LSDs)
involves sequential biochemical enzymatic tests followed by DNA sequencing, which is …

Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem genetic
disorders occurring mostly in infancy and childhood, characterized by a gradual …

Abstract Mucopolysaccharidosis type II (MPS II) is a rare, pediatric, neurometabolic disorder
due to the lack of activity of the lysosomal hydrolase iduronate 2-sulfatase (IDS), normally …

Clinical findings of hepatomegaly and splenomegaly, the abnormal enlargement of the liver
and spleen, respectively, should prompt a broad differential diagnosis that includes …

Lysosomal storage diseases (LSDs) are a heterogeneous group of approximately 70
monogenic metabolic disorders whose diagnosis represents an arduous challenge for …

Background Urine and plasma biomarker testing for lysosomal storage disorders by liquid
chromatography mass spectrometry (LC-MS) currently requires multiple analytical methods …