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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Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation [PDF]
Molecular Therapy: Methods & Clinical Development, 2020 Mucopolysaccharidosis type II is a disease caused by organ accumulation of glycosaminoglycans due to iduronate 2-sulfatase deficiency. This study investigated the pathophysiology of the bone complications associated with mucopolysaccharidosis II and the ...
Miho Wada +13 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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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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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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Non-Neuropathic Form of Mucopolysaccharidosis Type II: Clinical Cases
Вопросы современной педиатрии, 2021 Background. Mucopolysaccharidosis (MPS) type II is an X-linked hereditary disease from the lysosomal storage diseases group. The absence or malfunctioning of the iduronate-2-sulfatase enzyme leads to disruption in glycosaminoglycans (GAG) degradation ...
Nato D. Vashakmadze +4 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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