Mucopolysaccharidosis Type II: A Kenyan Case Series [PDF]
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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The diagnosis and management of mucopolysaccharidosis type II [PDF]
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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Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland [PDF]
Biomedicines, 2023 Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is a rare, inherited lysosomal storage disease. The disease is caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase (I2S) due to mutations in the IDS gene, which leads ...
Zbigniew Żuber +4 more
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Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update [PDF]
International Journal of Neonatal Screening, 2020 Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, progressive multisystemic lysosomal storage disorder with significant morbidity and premature mortality.
Barbara K. Burton +2 more
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A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation [PDF]
Scientific Reports, 2023 Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by an accumulation of glycosaminoglycans (GAGs), including heparan sulfate, in the body.
Ryuichi Mashima +4 more
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Study on the disease burden of patients with mucopolysaccharidosis type II in China [PDF]
Orphanet Journal of Rare DiseasesBackground In this study, we investigated the patient population of Mucopolysaccharidosis type II (MPS II) in China, understood the basic situation, prevalence and diagnosis and treatment status of the patients, as well as the economic burden of the ...
Ni Yuan +8 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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Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]
, 2016 BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I +7 more
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In vivo CRISPR/Cas9-mediated gene integration corrects mucopolysaccharidosis type II in mice [PDF]
Genes and DiseasesHanfei Yu +9 more
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Mucopolysachharidosis-II: A Rare Case Report
Nepal Journal of Dermatology, Venereology & Leprology, 2020 Mucopolysaccharidosis belongs to a group of metabolic disorders caused by absence or defective activity of lysosomal enzymes. Mucopolysaccharides are major components of intercellular connective tissue and defect in their metabolism leads to an ...
Kalgi Baxi, Ashish Jagati, Pooja Agarwal
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