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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1966 1
1969 2
1970 1
1971 1
1972 1
1973 4
1974 1
1975 4
1976 1
1977 1
1982 2
1983 3
1984 2
1985 2
1986 1
1987 1
1988 1
1989 2
1990 2
1991 3
1992 3
1993 3
1994 4
1995 2
1996 5
1997 7
1998 7
1999 11
2000 10
2001 10
2002 12
2003 18
2004 19
2005 21
2006 35
2007 35
2008 41
2009 36
2010 39
2011 52
2012 38
2013 54
2014 61
2015 50
2016 54
2017 52
2018 43
2019 45
2020 35
2021 34
2022 35
2023 31
2024 13

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834 results

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Page 1
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group. Gentner B, et al. N Engl J Med. 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. N Engl J Med. 2021. PMID: 34788506 Clinical Trial.
BACKGROUND: Allogeneic hematopoietic stem-cell transplantation is the standard of care for Hurler syndrome (mucopolysaccharidosis type I, Hurler variant [MPSIH]). However, this treatment is only partially curative and is associated with complications. ...
BACKGROUND: Allogeneic hematopoietic stem-cell transplantation is the standard of care for Hurler syndrome (mucopolysaccharidosis typ …
Anesthesiological risks in mucopolysaccharidoses.
Moretto A, Bosatra MG, Marchesini L, Tesoro S. Moretto A, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):116. doi: 10.1186/s13052-018-0554-1. Ital J Pediatr. 2018. PMID: 30442160 Free PMC article. Review.
BACKGROUND: Patients suffering from mucopolysaccharidosis are among the most complex from the anesthesiological point of view, especially regarding the management of the airway. ...METHODS: A query of the PubMed database specific for "anesthesia" and "mucopolysaccharido …
BACKGROUND: Patients suffering from mucopolysaccharidosis are among the most complex from the anesthesiological point of view, especi …
A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II.
Okuyama T, Eto Y, Sakai N, Nakamura K, Yamamoto T, Yamaoka M, Ikeda T, So S, Tanizawa K, Sonoda H, Sato Y. Okuyama T, et al. Mol Ther. 2021 Feb 3;29(2):671-679. doi: 10.1016/j.ymthe.2020.09.039. Epub 2020 Sep 30. Mol Ther. 2021. PMID: 33038326 Free PMC article. Clinical Trial.
In order to establish its efficacy and safety, a multicenter, single-arm, open-label phase 2/3 clinical trial was conducted in 28 Japanese patients with mucopolysaccharidosis II (MPS-II, Hunter syndrome) by intravenous administrations of 2.0 mg/kg of pabinafu …
In order to establish its efficacy and safety, a multicenter, single-arm, open-label phase 2/3 clinical trial was conducted in …
Novel therapies for mucopolysaccharidosis type III.
Seker Yilmaz B, Davison J, Jones SA, Baruteau J. Seker Yilmaz B, et al. J Inherit Metab Dis. 2021 Jan;44(1):129-147. doi: 10.1002/jimd.12316. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32944950 Free PMC article. Review.
Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan inherited lysosomal storage disease and one of the most common MPS subtypes. ...In addition, we present experimental research with preclinical mRNA and gene editing strategies. Lessons from animal …
Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan inherited lysosomal storage disease and one of the most c …
Elosulfase alfa.
Haddley K. Haddley K. Drugs Today (Barc). 2014 Jul;50(7):475-83. doi: 10.1358/dot.2014.50.7.2177904. Drugs Today (Barc). 2014. PMID: 25101330 Review.
Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is an inherited, lysosomal storage disorder caused by genetic mutations in N-acetylgalactosamine-6-sulfatase (GALNS) enzyme gene. ...BioMarin Pharmaceutical developed elosulfase alfa, a recombinant …
Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is an inherited, lysosomal storage disorder caused by gen …
Mucopolysaccharidosis IVA and glycosaminoglycans.
Khan S, Alméciga-Díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Mason RW, Orii T, Tomatsu S. Khan S, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):78-95. doi: 10.1016/j.ymgme.2016.11.007. Epub 2016 Nov 29. Mol Genet Metab. 2017. PMID: 27979613 Free PMC article. Review.
Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. ...The unique skeletal features are distinguished by a disproportional short …
Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused b …
Laronidase.
[No authors listed] [No authors listed] BioDrugs. 2002;16(4):316-8. doi: 10.2165/00063030-200216040-00009. BioDrugs. 2002. PMID: 12196045 Review.
This open label trial involved weekly infusions with laronidase. The two-year follow-up data revealed sustained and, in certain parameters, improved clinical results recorded at the end of 1 year of therapy. ...In the open-label extension study, patients from both t …
This open label trial involved weekly infusions with laronidase. The two-year follow-up data revealed sustained and, in certain param …
Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease).
Kubaski F, Vairo F, Baldo G, de Oliveira Poswar F, Corte AD, Giugliani R. Kubaski F, et al. Curr Pharm Des. 2020;26(40):5100-5109. doi: 10.2174/1381612826666200724161504. Curr Pharm Des. 2020. PMID: 33138761 Review.
BACKGROUND: Mucopolysaccharidosis type II (Hunter syndrome, or MPS II) is an X-linked lysosomal disorder caused by the deficiency of iduronate-2-sulfatase, which leads to the accumulation of glycosaminoglycans (GAGs) in a variety of tissues, resulting in a multisystemic di …
BACKGROUND: Mucopolysaccharidosis type II (Hunter syndrome, or MPS II) is an X-linked lysosomal disorder caused by the deficiency of …
Mucopolysaccharidosis type I.
Wraith JE, Jones S. Wraith JE, et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:102-6. Pediatr Endocrinol Rev. 2014. PMID: 25345091 Review.
Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the lysosomal hydrolase a-L-Iduronidase leading to accumulation of the GAGs, dermatan sulfate, and heparan sulphate, The disease spectrum includes a disorder with severe involvement and CNS disease Hurler di …
Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the lysosomal hydrolase a-L-Iduronidase leading to accumulation of …
Therapy for the mucopolysaccharidoses.
Valayannopoulos V, Wijburg FA. Valayannopoulos V, et al. Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v49-59. doi: 10.1093/rheumatology/ker396. Rheumatology (Oxford). 2011. PMID: 22210671 Review.
Better understanding of disease pathophysiology, improved supportive care and availability of disease-specific treatments for some of the mucopolysaccharidosis (MPS) disorders have greatly improved the outlook for patients with MPS disorders. ...
Better understanding of disease pathophysiology, improved supportive care and availability of disease-specific treatments for some of the …
834 results