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

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 …

Abstract Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder (LSD)
caused by mutations in gene encoding for GALNS enzyme. Lack of GALNS activity leads to …

Abstract Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by
mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan …

Several studies have been published on the frequency of the mucopolysaccharidoses
(MPS) in different countries. The objective of the present study was to estimate the birth …

Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by
mutations in genes coding for proteins associated with the lysosomal function. Despite the …

Colombia has a high prevalence of mucopolysaccharidosis (MPS) type IVA. Nevertheless,
data regarding the mutation spectrum for MPS IVA in this population have not been …

Objectives Mucopolysaccharidosis III, an autosomal recessive lysosomal storage disorder, is
characterized by progressive mental retardation and behavioral problems. Meta-analysis of …

Objective The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid
(AF) from an MPS VII fetus compared with age‐matched fetuses obtained from normal …