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Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.
Herbst ZM, Hong X, Urdaneta L, Klein T, Waggoner C, Liao HC, Kubaski F, Giugliani R, Fuller M, Gelb MH. Herbst ZM, et al. Among authors: giugliani r. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107632. doi: 10.1016/j.ymgme.2023.107632. Epub 2023 Jun 24. Mol Genet Metab. 2023. PMID: 37407323
Further cases of "neighbor" mutations in mucopolysaccharidosis type II.
Schwartz IV, Lima LC, Tylee K, Sobrinho RP, Norato DY, Duarte AR, Besley G, Burin MG, Matte U, Giugliani R, Leistner-Segal S. Schwartz IV, et al. Among authors: giugliani r. Am J Med Genet A. 2006 Aug 1;140(15):1684-6. doi: 10.1002/ajmg.a.31317. Am J Med Genet A. 2006. PMID: 16770800 No abstract available.
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
Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study.
Giugliani R, Lampe C, Guffon N, Ketteridge D, Leão-Teles E, Wraith JE, Jones SA, Piscia-Nichols C, Lin P, Quartel A, Harmatz P. Giugliani R, et al. Am J Med Genet A. 2014 Aug;164A(8):1953-64. doi: 10.1002/ajmg.a.36584. Epub 2014 Apr 24. Am J Med Genet A. 2014. PMID: 24764221 Free PMC article.
574 results