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Page 1
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Zanetti A, et al. Among authors: lin hy, lin sp. Hum Mutat. 2021 Nov;42(11):1384-1398. doi: 10.1002/humu.24270. Epub 2021 Aug 23. Hum Mutat. 2021. PMID: 34387910 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. Among authors: lin sp. 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.
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: lin sp. 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.
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
Okur I, Ezgu F, Giugliani R, Muschol N, Koehn A, Amartino H, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Peters H, Lee J, Nestrasil I, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E. Okur I, et al. Among authors: lin sp. J Pediatr. 2022 Oct;249:50-58.e2. doi: 10.1016/j.jpeds.2022.06.005. Epub 2022 Jun 13. J Pediatr. 2022. PMID: 35709957 Free article.
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. Among authors: lin sp. 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
A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.
Muschol N, Koehn A, von Cossel K, Okur I, Ezgu F, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Nestrasil I, Kaufman B, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E. Muschol N, et al. Among authors: lin sp. J Clin Invest. 2023 Jan 17;133(2):e165076. doi: 10.1172/JCI165076. J Clin Invest. 2023. PMID: 36413418 Free PMC article. Clinical Trial.
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
de Ru MH, Teunissen QG, van der Lee JH, Beck M, Bodamer OA, Clarke LA, Hollak CE, Lin SP, Rojas MV, Pastores GM, Raiman JA, Scarpa M, Treacy EP, Tylki-Szymanska A, Wraith JE, Zeman J, Wijburg FA. de Ru MH, et al. Among authors: lin sp. Orphanet J Rare Dis. 2012 Apr 23;7:22. doi: 10.1186/1750-1172-7-22. Orphanet J Rare Dis. 2012. PMID: 22524701 Free PMC article.
Trends of pre-treatment drug resistance in antiretroviral-naïve people with HIV-1 in the era of second-generation integrase strand-transfer inhibitors in Taiwan.
Chen GJ, Cheng CY, Yang CJ, Lee NY, Tang HJ, Huang SH, Huang MH, Liou BH, Lee YC, Lin CY, Hung TC, Lin SP, Sun HY, Chang SY, Hung CC; Taiwan HIV Study Group. Chen GJ, et al. Among authors: lin sp. J Antimicrob Chemother. 2024 May 2;79(5):1157-1163. doi: 10.1093/jac/dkae086. J Antimicrob Chemother. 2024. PMID: 38546761
743 results