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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: giugliani r. 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.
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.
Tomatsu S, Dieter T, Schwartz IV, Sarmient P, Giugliani R, Barrera LA, Guelbert N, Kremer R, Repetto GM, Gutierrez MA, Nishioka T, Serrato OP, Montaño AM, Yamaguchi S, Noguchi A. Tomatsu S, et al. Among authors: giugliani r. J Hum Genet. 2004;49(9):490-494. doi: 10.1007/s10038-004-0178-8. Epub 2004 Aug 11. J Hum Genet. 2004. PMID: 15309681
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leão Teles E, Sá Miranda MC, Hopwood JJ. Karageorgos L, et al. Among authors: giugliani r. Hum Mutat. 2007 Sep;28(9):897-903. doi: 10.1002/humu.20534. Hum Mutat. 2007. PMID: 17458871
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations.
de Camargo Pinto LL, Maluf SW, Leistner-Segal S, Zimmer da Silva C, Brusius-Facchin A, Burin MG, Brustolin S, Llerena J, Moraes L, Vedolin L, Schuch A, Giugliani R, Schwartz IV. de Camargo Pinto LL, et al. Among authors: giugliani r. Am J Med Genet A. 2011 Jan;155A(1):50-7. doi: 10.1002/ajmg.a.33770. Am J Med Genet A. 2011. PMID: 21204210
Important aspects in the molecular diagnosis of mucopolysaccharidoses.
Brusius-Facchin AC, Kubaski F, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Among authors: giugliani r. J Inherit Metab Dis. 2013 Sep;36(5):905-6. doi: 10.1007/s10545-012-9557-z. Epub 2012 Nov 9. J Inherit Metab Dis. 2013. PMID: 23138989 No abstract available.
574 results