Jones S - Search Results

1

The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.

Muenzer J, Bodamer O, Burton B, Clarke L, Frenking GS, Giugliani R, Jones S, Rojas MV, Scarpa M, Beck M, Harmatz P. Muenzer J, et al. Among authors: jones s. Eur J Pediatr. 2012 Jan;171(1):181-8. doi: 10.1007/s00431-011-1606-3. Epub 2011 Oct 29. Eur J Pediatr. 2012. PMID: 22037758 Free PMC article.

2

Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients.

Wynn RF, Mercer J, Page J, Carr TF, Jones S, Wraith JE. Wynn RF, et al. Among authors: jones s. J Pediatr. 2009 Jan;154(1):135-9. doi: 10.1016/j.jpeds.2008.07.004. J Pediatr. 2009. PMID: 19187736

3

Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

Jones SA, Almássy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, Malm G, Ramaswami U, Tincheva R, Wraith JE; HOS Investigators. Jones SA, et al. J Inherit Metab Dis. 2009 Aug;32(4):534-43. doi: 10.1007/s10545-009-1119-7. Epub 2009 Jul 14. J Inherit Metab Dis. 2009. PMID: 19597960

4

Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey.

Burton BK, Guffon N, Roberts J, van der Ploeg AT, Jones SA; HOS investigators. Burton BK, et al. Mol Genet Metab. 2010 Oct-Nov;101(2-3):123-9. doi: 10.1016/j.ymgme.2010.06.011. Epub 2010 Jun 23. Mol Genet Metab. 2010. PMID: 20638311

5

Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II.

Schulze-Frenking G, Jones SA, Roberts J, Beck M, Wraith JE. Schulze-Frenking G, et al. J Inherit Metab Dis. 2011 Feb;34(1):203-8. doi: 10.1007/s10545-010-9215-2. Epub 2010 Oct 27. J Inherit Metab Dis. 2011. PMID: 20978944 Free PMC article.

6

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R; Hunter Outcome Survey Investigators. Mendelsohn NJ, et al. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

7

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.

de Ru MH, Boelens JJ, Das AM, Jones SA, van der Lee JH, Mahlaoui N, Mengel E, Offringa M, O'Meara A, Parini R, Rovelli A, Sykora KW, Valayannopoulos V, Vellodi A, Wynn RF, Wijburg FA. de Ru MH, et al. Orphanet J Rare Dis. 2011 Aug 10;6:55. doi: 10.1186/1750-1172-6-55. Orphanet J Rare Dis. 2011. PMID: 21831279 Free PMC article.

8

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery CA, Teles EL, Link B, Lund AM, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szymańska A, van der Ploeg A, Walker R, Zeman J, Wraith JE; Hunter Syndrome Europena Expert Council. Scarpa M, et al. Among authors: jones s. Orphanet J Rare Dis. 2011 Nov 7;6:72. doi: 10.1186/1750-1172-6-72. Orphanet J Rare Dis. 2011. PMID: 22059643 Free PMC article.

9

A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI.

Solanki GA, Alden TD, Burton BK, Giugliani R, Horovitz DD, Jones SA, Lampe C, Martin KW, Ryan ME, Schaefer MK, Siddiqui A, White KK, Harmatz P. Solanki GA, et al. Mol Genet Metab. 2012 Sep;107(1-2):15-24. doi: 10.1016/j.ymgme.2012.07.018. Epub 2012 Jul 21. Mol Genet Metab. 2012. PMID: 22938833 Free article. Review.

10

The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.

Harmatz P, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, Guffon N, Burton BK, Hendriksz CJ, Mitchell J, Martins A, Jones S, Guelbert N, Vellodi A, Hollak C, Slasor P, Decker C. Harmatz P, et al. Among authors: jones s. Mol Genet Metab. 2013 May;109(1):54-61. doi: 10.1016/j.ymgme.2013.01.021. Epub 2013 Feb 9. Mol Genet Metab. 2013. PMID: 23452954 Free article.

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