Jones SA - Search Results

1

Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.

Broomfield A, Davison J, Roberts J, Stewart C, Hensman P, Beesley C, Tylee K, Rust S, Schwahn B, Jameson E, Vijay S, Santra S, Sreekantam S, Ramaswami U, Chakrapani A, Raiman J, Cleary MA, Jones SA. Broomfield A, et al. Among authors: jones sa. Mol Genet Metab. 2020 Feb;129(2):98-105. doi: 10.1016/j.ymgme.2019.07.016. Epub 2019 Jul 30. Mol Genet Metab. 2020. PMID: 31383595

2

N-carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia.

Jones S, Reed CA, Vijay S, Walter JH, Morris AA. Jones S, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S219-22. doi: 10.1007/s10545-008-0777-1. Epub 2008 Feb 21. J Inherit Metab Dis. 2008. PMID: 18338235

3

Initial report from the Hunter Outcome Survey.

Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J; HOS Investigators. Wraith JE, et al. Genet Med. 2008 Jul;10(7):508-16. doi: 10.1097/gim.0b013e31817701e6. Genet Med. 2008. PMID: 18580692

4

Home treatment with Elaprase and Naglazyme is safe in patients with mucopolysaccharidoses types II and VI, respectively.

Bagewadi S, Roberts J, Mercer J, Jones S, Stephenson J, Wraith JE. Bagewadi S, et al. J Inherit Metab Dis. 2008 Dec;31(6):733-7. doi: 10.1007/s10545-008-0980-0. Epub 2008 Oct 19. J Inherit Metab Dis. 2008. PMID: 18923918

5

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

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. Among authors: jones sa. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

7

Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene.

Gottwald I, Hughes J, Stewart F, Tylee K, Church H, Jones SA. Gottwald I, et al. Among authors: jones sa. Mol Genet Metab. 2011 Jul;103(3):300-2. doi: 10.1016/j.ymgme.2011.03.024. Epub 2011 Apr 7. Mol Genet Metab. 2011. PMID: 21514195

8

Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.

Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S. Hendriksz CJ, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):54-64. doi: 10.1016/j.ymgme.2013.04.002. Epub 2013 Apr 10. Mol Genet Metab. 2013. PMID: 23665161 Free PMC article. Review.

9

Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.

Broomfield A, Fletcher J, Davison J, Finnegan N, Fenton M, Chikermane A, Beesley C, Harvey K, Cullen E, Stewart C, Santra S, Vijay S, Champion M, Abulhoul L, Grunewald S, Chakrapani A, Cleary MA, Jones SA, Vellodi A. Broomfield A, et al. Among authors: jones sa. J Inherit Metab Dis. 2016 Mar;39(2):261-71. doi: 10.1007/s10545-015-9898-5. Epub 2015 Oct 26. J Inherit Metab Dis. 2016. PMID: 26497565

10

The impact of the immune system on the safety and efficiency of enzyme replacement therapy in lysosomal storage disorders.

Broomfield A, Jones SA, Hughes SM, Bigger BW. Broomfield A, et al. Among authors: jones sa. J Inherit Metab Dis. 2016 Jul;39(4):499-512. doi: 10.1007/s10545-016-9917-1. Epub 2016 Feb 16. J Inherit Metab Dis. 2016. PMID: 26883220 Review.

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