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Page 1
Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.
Harmatz PR, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, Guffon N, Burton BK, Hendriksz CJ, Mitchell JJ, Martins AM, Jones SA, Guelbert N, Vellodi A, Wijburg FA, Yang K, Slasor P, Decker C. Harmatz PR, et al. Among authors: jones sa. Mol Genet Metab. 2015 Feb;114(2):186-94. doi: 10.1016/j.ymgme.2014.10.015. Epub 2014 Nov 1. Mol Genet Metab. 2015. PMID: 25582974 Free article.
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. Among authors: jones sa. 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.
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. Among authors: jones sa. 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.
Anaesthesia and airway management in mucopolysaccharidosis.
Walker R, Belani KG, Braunlin EA, Bruce IA, Hack H, Harmatz PR, Jones S, Rowe R, Solanki GA, Valdemarsson B. Walker R, et al. J Inherit Metab Dis. 2013 Mar;36(2):211-9. doi: 10.1007/s10545-012-9563-1. Epub 2012 Nov 30. J Inherit Metab Dis. 2013. PMID: 23197104 Free PMC article. Review.
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. 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.
921 results