Results 1 to 10 of about 12,851 (195)
Педиатрическая фармакология, 2011 Article is devoted to one of the orphan diseases — mucopolysaccharidosis (MPS), which is the result of any lysosomal enzyme deficiency (which determines the type of illness). The most common is the MPS type II (Hunter syndrome), developing as a result of
N.D. Vashakmadze +6 more
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Mucopolysaccharidosis Type II: A Kenyan Case Series
International Journal of Endocrinology, 2021 Hunter syndrome, or mucopolysaccharidosis type 2 (MPS2), is a lysosomal storage disorder associated with the involvement of multiple organs such as the central nervous system, hepatomegaly, musculoskeletal, respiratory, cardiac, and hearing.
L. N. Wainaina Mungai +3 more
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Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by cognitive impairment in most patients. This post hoc analysis evaluated changes in cognitive function, adaptive behavior and functional outcomes in patients
Karen S. Yee +3 more
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Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey [PDF]
JIMD ReportsMucopolysaccharidosis II is a rare, X‐linked disease, with very few reports of affected female patients. Natural history data describe a predominantly male population, and appropriate disease characterization in female patients is lacking.
Barbara K. Burton +10 more
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The diagnosis and management of mucopolysaccharidosis type II
Italian Journal of PediatricsMucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. With pathogenic variants of the IDS gene, the activity of iduronate-2-sulfatase (IDS) is reduced or lost, causing the inability to degrade ...
Shao-Jia Mao +4 more
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Merging evans syndrome with mucopolysaccharidosis type II: a case report [PDF]
Frontiers in PediatricsMucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage metabolic disorder caused by pathogenic mutations in the iduronate-2-sulfatase (IDS) gene. Herein, we report the case of a 2-year-old male patient diagnosed with concurrent
Xinrui Wang +6 more
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Biomarkers in patients with mucopolysaccharidosis type II and IV
Molecular Genetics and Metabolism Reports, 2019 Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers.
Honoka Fujitsuka +11 more
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Mucopolysaccharidosis Type II in the Practice of the Physician
Aktualʹnaâ Infektologiâ, 2016 The article is devoted to one of the hereditary diseases — mucopolysaccharidosis type II, which is caused by deficiency of lysosomal enzymes, which leads to the catabolism disorder of the basic substance of the connective tissue mucopolysaccharide ...
I.Y. Vatanskaya +2 more
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MUCOPOLYSACHARIDOSIS II AND SURGERY /REVIEW/ [PDF]
Trakia Journal of Sciences, 2020 Patients with type mucopolysaccharidosis/MPS/ II usually undergo surgery at an early age before the diagnosed. Mucopolysaccharidosis, type II is also known as Hunter syndrome.Recurrent early surgical interventions, especially for hernia or carpal tunnel ...
K. Kalinova, K. Georgiev, I. Mladenova
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Neuroradiological Characteristics in Patients with Mucopolysaccharidosis Type II: A Systematic Review [PDF]
Journal of Medical Academics, 2023 Introduction: Mucopolysaccharidosis (MPS) is an inherited metabolic disorder that is part of the lysosomal disorders; the main characteristic is the deficiency of lysosomal enzymes responsible for the degradation of glycosaminoglycans except for type II ...
Yancarlos Ramos-Villegas +10 more
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