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Page 1
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO. Savarirayan R, et al. Among authors: theroux m. Nat Rev Endocrinol. 2022 Mar;18(3):173-189. doi: 10.1038/s41574-021-00595-x. Epub 2021 Nov 26. Nat Rev Endocrinol. 2022. PMID: 34837063 Free article. Review.
Non-invasive pulmonary function test on Morquio patients.
Kubaski F, Tomatsu S, Patel P, Shimada T, Xie L, Yasuda E, Mason R, Mackenzie WG, Theroux M, Bober MB, Oldham HM, Orii T, Shaffer TH. Kubaski F, et al. Among authors: theroux m. Mol Genet Metab. 2015 Aug;115(4):186-92. doi: 10.1016/j.ymgme.2015.06.007. Epub 2015 Jun 23. Mol Genet Metab. 2015. PMID: 26116954 Free PMC article.
Obstructive airway in Morquio A syndrome, the past, the present and the future.
Tomatsu S, Averill LW, Sawamoto K, Mackenzie WG, Bober MB, Pizarro C, Goff CJ, Xie L, Orii T, Theroux M. Tomatsu S, et al. Among authors: theroux m. Mol Genet Metab. 2016 Feb;117(2):150-6. doi: 10.1016/j.ymgme.2015.09.007. Epub 2015 Sep 21. Mol Genet Metab. 2016. PMID: 26432669 Free PMC article.
Morquio A syndrome: diagnosis and current and future therapies.
Tomatsu S, Yasuda E, Patel P, Ruhnke K, Shimada T, Mackenzie WG, Mason R, Thacker MM, Theroux M, Montaño AM, Alméciga-Díaz CJ, Barrera LA, Chinen Y, Sly WS, Rowan D, Suzuki Y, Orii T. Tomatsu S, et al. Among authors: theroux m. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1(0 1):141-51. Pediatr Endocrinol Rev. 2014. PMID: 25345096 Free PMC article. Review.
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Peracha H, et al. Among authors: theroux m. Mol Genet Metab. 2018 Sep;125(1-2):18-37. doi: 10.1016/j.ymgme.2018.05.004. Epub 2018 May 15. Mol Genet Metab. 2018. PMID: 29779902 Free PMC article. Review.
Critical review of current MPS guidelines and management.
Stapleton M, Hoshina H, Sawamoto K, Kubaski F, Mason RW, Mackenzie WG, Theroux M, Kobayashi H, Yamaguchi S, Suzuki Y, Fukao T, Tadao O, Ida H, Tomatsu S. Stapleton M, et al. Among authors: theroux m. Mol Genet Metab. 2019 Mar;126(3):238-245. doi: 10.1016/j.ymgme.2018.07.001. Epub 2018 Jul 7. Mol Genet Metab. 2019. PMID: 30143438 Review.
Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder.
Yasuda E, Fushimi K, Suzuki Y, Shimizu K, Takami T, Zustin J, Patel P, Ruhnke K, Shimada T, Boyce B, Kokas T, Barone C, Theroux M, Mackenzie W, Nagel B, Ryerse JS, Orii KE, Iida H, Orii T, Tomatsu S. Yasuda E, et al. Among authors: theroux m. Mol Genet Metab. 2013 Jul;109(3):301-11. doi: 10.1016/j.ymgme.2013.04.009. Epub 2013 Apr 16. Mol Genet Metab. 2013. PMID: 23683769
68 results