Treatment outcomes maintained in Hunter syndrome patients: a case series on switching from idursulfase to idursulfase beta in Belarus [PDF]
Therapeutic Advances in Rare DiseaseHunter syndrome (Mucopolysaccharidosis type II, MPS II) is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, leading to glycosaminoglycan accumulation.
Anna Kulpanovich
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A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Norm-based scores used to assess cognitive ability have clinical value when describing functioning of patients with neuronopathic disorders compared with unaffected, same-age peers.
Karen S. Yee +5 more
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Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS) [PDF]
Orphanet Journal of Rare Diseases, 2022 Background: Idursulfase and laronidase are drugs used to treat Hunter syndrome (mucopolysaccharidosis type 2) and Scheie syndrome (mucopolysaccharidosis type 1 S), respectively.
Federico Spataro +14 more
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Experience of Idursulfase Beta Administration in the Child with Mucopolysaccharidosis Type II: Clinical Case [PDF]
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
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Molecular Genetics and Metabolism Reports, 2015 We report on a 6 year old boy with severe MPS II undergoing immune modulation therapy due to high IgG antibody titers to IV idursulfase and no significant decline in urinary GAG levels since initiating enzyme replacement therapy.
Katherine H. Kim +2 more
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The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II. [PDF]
PLoS ONE, 2014 Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase.
Zbigniew Żuber +3 more
doaj +2 more sources
Nebulized and intravenous enzyme replacement therapy in mice with mucopolysaccharidosis type II. [PDF]
PLoS ONEMucopolysaccharidosis Type II is a hereditary lysosomal storage disease characterized by deficiency in the enzyme iduronate 2-sulfatase (IDS). IDS is critical in the breakdown of sulfated glycosaminoglycans and its deficiency leads to an accumulation of ...
Alex J Shamoun +4 more
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Drug Design, Development and Therapy, 2017 David AH Whiteman,* Alan Kimura* Research & Development, Shire Human Genetic Therapies, Inc., Lexington, MA, USA *These authors contributed equally to this work Abstract: Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is
Whiteman DAH, Kimura A
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Olipudase alfa IgE‐mediated anaphylaxis prevented by omalizumab and tailored desensitization in a child with acid sphingomyelinase deficiency [PDF]
Pediatr Allergy ImmunolPediatric Allergy and Immunology, Volume 37, Issue 5, May 2026.
Laura Fiori +6 more
wiley +2 more sources
Genotype–Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study [PDF]
DiagnosticsBackground/Objectives: Mucopolysaccharidosis type II (MPS II) is an inherited metabolic disorder characterized by progressive neurologic and extra-neurologic findings. We aimed to explore the age at symptom onset and at diagnosis as well as contribute to
Havva Yazıcı +16 more
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