Results 1 to 10 of about 436 (130)
Glaucoma in mucopolysaccharidoses [PDF]
Orphanet Journal of Rare Diseases, 2021 Mucopolysaccharidoses are a group of lysosomal storage disorders that are caused by deficiency of enzymes involved in glycosaminoglycans degradation.
Weijing Kong +4 more
doaj +3 more sources
Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders
Diagnostics, 2021 Glycosaminoglycans (GAGs) are present in proteoglycans, which play critical physiological roles in various tissues. They are known to be elevated in mucopolysaccharidoses (MPS), a group of rare inherited metabolic diseases in which the lysosomal enzyme ...
Yasuhiko Ago +2 more
exaly +3 more sources
Diagnosis of Mucopolysaccharidoses [PDF]
Diagnostics, 2020 The mucopolysaccharidoses (MPSs) include 11 different conditions caused by specific enzyme deficiencies in the degradation pathway of glycosaminoglycans (GAGs). Although most MPS types present increased levels of GAGs in tissues, including blood and urine, diagnosis is challenging as specific enzyme assays are needed for the correct diagnosis.
Diana Rojas Malaga +2 more
exaly +4 more sources
Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy
Cells, 2020 Cathepsins (CTSs) are ubiquitously expressed proteases normally found in the endolysosomal compartment where they mediate protein degradation and turnover.
Valeria de Pasquale +2 more
exaly +3 more sources
JIMD ReportsEnzyme replacement therapy (ERT) with elosulfase alfa is the only approved treatment for mucopolysaccharidosis type IVA. This case report delineates the 5‐year outcomes of ERT in two Korean siblings with mucopolysaccharidosis type IVA, with the younger ...
Shinjie Choi +3 more
doaj +2 more sources
Epidemiology of Mucopolysaccharidoses Update
Diagnostics, 2021 Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a lysosomal enzyme deficiency or malfunction, which leads to the accumulation of glycosaminoglycans in tissues and organs.
Betul Çelik +2 more
exaly +3 more sources
Orphanet Journal of Rare Diseases, 2022 Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes involved in glycosaminoglycans degradation. Relationship between mucopolysaccharidoses and related enzymes has been clarified clearly.
Weijing Kong +3 more
doaj +1 more source
Taiwan Journal of Ophthalmology, 2023 Mucopolysaccharidosis are group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes resulting in accumulation of glycosaminoglycans. Over time this accumulation damages cells, tissues, and organs.
Kusumitha Bhakthaganesh +5 more
doaj +1 more source
Diagnostics, 2021 Mucopolysaccharidoses (MPS) and mucolipidosis (ML II/III) are a group of lysosomal storage disorders (LSDs) that occur due to a dysfunction of the lysosomal hydrolases responsible for the catabolism of glycosaminoglycans (GAGs).
Nivethitha Arunkumar +14 more
doaj +1 more source
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions [PDF]
Genetics and Molecular Biology, 2021 The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, and the totality of cases may ...
Juliana Alves Josahkian +11 more
doaj +1 more source