Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series [PDF]
Molecular Genetics and Metabolism Reports, 2023 Mucopolysaccharidosis (MPS) type II (Hunter syndrome) is a rare X-linked, recessive, lysosomal storage disorder caused by the deficit of the enzyme iduronate 2-sulfatase (IDS), resulting in accumulation of glycosaminoglycans (GAGs) impairing cellular ...
Mei-Yan Chan +2 more
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Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II [PDF]
Molecular Genetics and Metabolism Reports, 2017 Mucopolysaccharidosis (MPS) II or Hunter syndrome is a chronic, progressive, multi-systemic illness associated with significant morbidity and early mortality. Available evidence in Asian populations shows that Hunter syndrome has a mean age of onset of 2
Lock-Hock Ngu +3 more
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Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II [PDF]
Molecular Therapy: Methods & Clinical Development, 2021 This open-label, phase 1/2 study (JMACCT CTR JMA-IIA00350) evaluated the efficacy and safety of intracerebroventricular idursulfase beta in patients with mucopolysaccharidosis II (MPS II). Herein, we report the 100-week results.
Joo-Hyun Seo +4 more
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Comparative study of idursulfase beta and idursulfase in vitro and in vivo. [PDF]
J Hum Genet, 2017 Hunter syndrome is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to the accumulation of glycosaminoglycans (GAGs). Two recombinant enzymes, idursulfase and idursulfase beta are currently available for enzyme replacement therapy for Hunter syndrome.
Kim C +7 more
europepmc +4 more sources
Idursulfase Beta (Hunterase) Therapeutic Experience in a Patient with Mucopolysaccharidosis Type II
Вопросы современной педиатрии, 2023 Background. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked recessive disease caused by lysosomal enzyme iduronate-2-sulfatase deficiency resulting in progressive glycosaminoglycans (GAG) accumulation in tissues (dermatan sulfate ...
Nato D. Vashakmadze +4 more
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Вопросы современной педиатрии, 2020 Background. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare hereditary lysosomal storage disease associated with iduronate-2-sulfatase deficiency.
Tatiana K. Kruchina +2 more
doaj +3 more sources
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome). [PDF]
Orphanet J Rare Dis, 2013 Abstract Background Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase (IDS). In affected patients, glycosaminoglycan (GAG) accumulates in the lysosomes of many organs and tissues contributing to the pathology associated ...
Sohn YB +7 more
europepmc +4 more sources
Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II. [PDF]
Clinics (Sao Paulo), 2022 Background: Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme Iduronate-2- Sulfatase (IDS), leading to progressive accumulation of Glycosaminoglycans ...
Stephan BO +13 more
europepmc +3 more sources
Case report of neuronopathic mucopolysaccharidosis type II: Early intracerebroventricular enzyme replacement therapy and hematopoietic cell transplantation with developmental outcomes up to 5 years of age [PDF]
Molecular Genetics and Metabolism ReportsNeuronopathic mucopolysaccharidosis type II (MPS II) is a severe lysosomal storage disorder associated with early-onset developmental regression and a poor prognosis.
Azuma Ikari +2 more
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Judicialization and right to health in Brazil: a trajectory of matches and mismatches. [PDF]
Rev Saude Publica, 2023 Neste texto, discutem-se os impactos da judicialização na garantia do direito à saúde no Brasil e a necessidade de reavaliação do papel do Judiciário na sua proteção. Evidências da literatura técnico-científica e informações sobre a execução orçamentário-
Vieira FS.
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