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Page 1
Unique medical issues in adult patients with mucopolysaccharidoses.
Mitchell J, Berger KI, Borgo A, Braunlin EA, Burton BK, Ghotme KA, Kircher SG, Molter D, Orchard PJ, Palmer J, Pastores GM, Rapoport DM, Wang RY, White K. Mitchell J, et al. Among authors: orchard pj. Eur J Intern Med. 2016 Oct;34:2-10. doi: 10.1016/j.ejim.2016.05.017. Epub 2016 Jun 11. Eur J Intern Med. 2016. PMID: 27296591 Free article. Review.
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.
Kuiper GA, Langereis EJ, Breyer S, Carbone M, Castelein RM, Eastwood DM, Garin C, Guffon N, van Hasselt PM, Hensman P, Jones SA, Kenis V, Kruyt M, van der Lee JH, Mackenzie WG, Orchard PJ, Oxborrow N, Parini R, Robinson A, Schubert Hjalmarsson E, White KK, Wijburg FA. Kuiper GA, et al. Among authors: orchard pj. Orphanet J Rare Dis. 2019 Jan 18;14(1):17. doi: 10.1186/s13023-019-0997-5. Orphanet J Rare Dis. 2019. PMID: 30658664 Free PMC article. Review.
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M; MPS Consensus Programme Steering Committee; MPS Consensus Programme Co-Chairs. Akyol MU, et al. Among authors: orchard pj. Orphanet J Rare Dis. 2019 May 29;14(1):118. doi: 10.1186/s13023-019-1080-y. Orphanet J Rare Dis. 2019. PMID: 31142378 Free PMC article.
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.
Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M; MPS Consensus Programme Steering Committee; MPS Consensus Programme Co-Chairs. Akyol MU, et al. Among authors: orchard pj. Orphanet J Rare Dis. 2019 Jun 13;14(1):137. doi: 10.1186/s13023-019-1074-9. Orphanet J Rare Dis. 2019. PMID: 31196221 Free PMC article.
Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis.
Hinderer C, Katz N, Louboutin JP, Bell P, Tolar J, Orchard PJ, Lund TC, Nayal M, Weng L, Mesaros C, de Souza CFM, Dalla Corte A, Giugliani R, Wilson JM. Hinderer C, et al. Among authors: orchard pj. Hum Mol Genet. 2017 Oct 1;26(19):3837-3849. doi: 10.1093/hmg/ddx277. Hum Mol Genet. 2017. PMID: 28934395 Free PMC article.
Treatment of brain disease in the mucopolysaccharidoses.
Scarpa M, Orchard PJ, Schulz A, Dickson PI, Haskins ME, Escolar ML, Giugliani R. Scarpa M, et al. Among authors: orchard pj. Mol Genet Metab. 2017 Dec;122S:25-34. doi: 10.1016/j.ymgme.2017.10.007. Epub 2017 Oct 16. Mol Genet Metab. 2017. PMID: 29153844 Free article. Review.
228 results