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Mucopolysaccharidosis type II (MPS II) is an X‐linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal enzyme iduronate‐2‐sulfatase and consequent widespread storage of glycosaminoglycans, leading to several clinical consequences, with progressive manifestations which most times includes cognitive decline. MPS II has wide allelic and clinical...
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 pregnancies.
Method
Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age‐matched controls. Enzyme assay was performed in AF supernatant or cultured amniocytes. GUSB was analyzed by...
Background: Gaucher disease (GD) is a hereditary lysosomal storage disorder characterized by the accumulation of glucosylceramide, mainly in the cells of the reticuloendothelial system, due to a deficiency of the enzyme acid β-glucosidase (GBA). Diagnosis is usually based on measurement of GBA activity in peripheral leukocytes. The purpose of this study was to evaluate the ability of screening...
Fabry disease (FD) is a rare X-linked inborn error of metabolism caused by deficient activity of lysosomal α-galactosidase A (α-GAL). Due to random X inactivation, α-GAL activity in heterozygous females ranges from very low to overlapping normal values. Determining this specific range and altering assays cutoffs could become a valuable tool for minimizing the need in DNA sequencing for screening of...
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