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Idursulfase in Hunter syndrome treatment.
Zareba G. Zareba G. Drugs Today (Barc). 2007 Nov;43(11):759-67. doi: 10.1358/dot.2007.43.11.1157619. Drugs Today (Barc). 2007. PMID: 18174963 Review.
Hunter syndrome (mucopolysaccharidosis II, MPS II) is a rare X-linked lysosomal storage disorder caused by the deficiency of enzyme iduronate-2-sulfatase (I2S), which results in accumulation of undegraded dermatan and heparan sulfate in various tissues …
Hunter syndrome (mucopolysaccharidosis II, MPS II) is a rare X-linked lysosomal storage disorder caused by the d …
Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots.
Scott CR, Elliott S, Hong X, Huang JY, Kumar AB, Yi F, Pendem N, Chennamaneni NK, Gelb MH. Scott CR, et al. J Pediatr. 2020 Jan;216:204-207. doi: 10.1016/j.jpeds.2019.09.036. Epub 2019 Nov 12. J Pediatr. 2020. PMID: 31732130 Free PMC article.
OBJECTIVE: To test, in a newborn screening (NBS) laboratory, the performance of liquid chromatography-tandem mass spectrometry (LC-MS/MS) to assay 5 enzymatic activities in dried blood spots (DBS) for NBS of 5 lysosomal storage diseases (mucopolysaccharidosis [MPS]- …
OBJECTIVE: To test, in a newborn screening (NBS) laboratory, the performance of liquid chromatography-tandem mass spectrometry (LC-MS/MS) to …
Cognitive and adaptive behaviors associated with disease severity and genotype in patients with mucopolysaccharidosis II.
Yee KS, Alexanderian D, Merberg D, Natarajan M, Wang S, Wu Y, Whiteman DAH. Yee KS, et al. Mol Genet Metab. 2023 Nov;140(3):107652. doi: 10.1016/j.ymgme.2023.107652. Epub 2023 Jul 13. Mol Genet Metab. 2023. PMID: 37506513 Free article.
BACKGROUND: Mucopolysaccharidosis II (MPS II) is a rare, X-linked lysosomal storage disease caused by pathogenic variants of the iduronate-2-sulfatase gene (IDS) and is characterized by a highly variable disease spectrum. ...These data provide a starti …
BACKGROUND: Mucopolysaccharidosis II (MPS II) is a rare, X-linked lysosomal storage disease caused by pathogenic …
Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS).
Muenzer J, Botha J, Harmatz P, Giugliani R, Kampmann C, Burton BK. Muenzer J, et al. Orphanet J Rare Dis. 2021 Oct 30;16(1):456. doi: 10.1186/s13023-021-02052-4. Orphanet J Rare Dis. 2021. PMID: 34717704 Free PMC article.
BACKGROUND: Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, life-limiting lysosomal storage disease caused by deficient iduronate-2-sulfatase activity. ...Using data from patients with MPS II enrolled in the Hunter Outcome S …
BACKGROUND: Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, life-limiting lysosomal storage diseas …
Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment.
Yee KS, Alexanderian D, Martin S, Olayinka-Amao B, Whiteman DAH. Yee KS, et al. Orphanet J Rare Dis. 2024 Apr 12;19(1):158. doi: 10.1186/s13023-024-03147-4. Orphanet J Rare Dis. 2024. PMID: 38610004 Free PMC article.
BACKGROUND: Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by iduronate-2-sulfatase gene (IDS) deficiency and downstream glycosaminoglycan accumulation. ...These investigators enrolled the 56 patients with neuronopa …
BACKGROUND: Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by iduronate-2-s …
Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study.
Guffon N, Heron B, Chabrol B, Feillet F, Montauban V, Valayannopoulos V. Guffon N, et al. Orphanet J Rare Dis. 2015 Apr 12;10:43. doi: 10.1186/s13023-015-0259-0. Orphanet J Rare Dis. 2015. PMID: 25887606 Free PMC article.
BACKGROUND: Mucopolysaccharidosis II (MPS II) is associated with a broad spectrum of chronic and progressive, life-limiting symptoms. Idursulfase is approved for MPS II enzyme replacement therapy (ERT) in over 50 countries. This re …
BACKGROUND: Mucopolysaccharidosis II (MPS II) is associated with a broad spectrum of chronic and progressive, li …