Results 1 to 10 of about 3,464 (156)
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
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
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, , Betul Çelik
exaly +3 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
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
Mucopolysaccharidoses—What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview [PDF]
BiomoleculesThe classification of mucopolysaccharidoses (MPSs) includes the classical types (I; II; III with subtypes A, B, C, and D; IV with subtypes A and B; VI; VII; IX; X), associated with impaired lysosomal degradation of mucopolysaccharides, also known as ...
Patryk Lipiński +11 more
doaj +2 more sources
The top 100 most cited articles on mucopolysaccharidoses: a bibliometric analysis [PDF]
Frontiers in GeneticsBackground: Bibliometrics can trace general research trends in a particular field. Mucopolysaccharidoses (MPS), as a group of rare genetic diseases, seriously affect the quality of life of patients and their families.
Ruyu Liao +5 more
doaj +2 more sources
The Birth Prevalence of Mucopolysaccharidosis Types I, II, III, IVA, VI, and VII in the Republic of Kazakhstan Between 1984 and 2023 [PDF]
DiagnosticsObjectives: Mucopolysaccharidoses (MPSs) are a group of a rare inherited lysosomal storage diseases caused by a deficiency or complete lack of lysosomal enzymes participating in glycosaminoglycan (GAG) degradation, which leads to multisystemic impairment
Assel Tulebayeva +3 more
doaj +2 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