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574 results

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Page 1
Punctate calcifications in lysosomal storage disorders.
Schwartz IVD, Artigalás O, Ries M, Clarke JTR, Giugliani R, Beck M. Schwartz IVD, et al. Among authors: giugliani r. Clin Dysmorphol. 2009 Jul;18(3):172-177. doi: 10.1097/MCD.0b013e32832a9ed5. Clin Dysmorphol. 2009. PMID: 19339876 No abstract available.
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.
Tomatsu S, Okamura K, Taketani T, Orii KO, Nishioka T, Gutierrez MA, Velez-Castrillon S, Fachel AA, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Noguchi A. Tomatsu S, et al. Among authors: giugliani r. Pediatr Res. 2004 Apr;55(4):592-7. doi: 10.1203/01.PDR.0000113767.60140.E9. Epub 2004 Jan 7. Pediatr Res. 2004. PMID: 14711889
Investigation of lysosomal storage diseases in nonimmune hydrops fetalis.
Burin MG, Scholz AP, Gus R, Sanseverino MT, Fritsh A, Magalhães JA, Timm F, Barrios P, Chesky M, Coelho JC, Giugliani R. Burin MG, et al. Among authors: giugliani r. Prenat Diagn. 2004 Aug;24(8):653-7. doi: 10.1002/pd.967. Prenat Diagn. 2004. PMID: 15305357
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
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Swiedler SJ, Beck M, Bajbouj M, Giugliani R, Schwartz I, Harmatz P, Wraith JE, Roberts J, Ketteridge D, Hopwood JJ, Guffon N, Sá Miranda MC, Teles EL, Berger KI, Piscia-Nichols C. Swiedler SJ, et al. Among authors: giugliani r. Am J Med Genet A. 2005 Apr 15;134A(2):144-50. doi: 10.1002/ajmg.a.30579. Am J Med Genet A. 2005. PMID: 15690405
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.
Harmatz P, Giugliani R, Schwartz I, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Yu ZF, Wittes J, Berger KI, Newman MS, Lowe AM, Kakkis E, Swiedler SJ; MPS VI Phase 3 Study Group. Harmatz P, et al. Among authors: giugliani r. J Pediatr. 2006 Apr;148(4):533-539. doi: 10.1016/j.jpeds.2005.12.014. J Pediatr. 2006. PMID: 16647419 Clinical Trial.
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Harmatz P, Giugliani R, D Schwartz IV, Guffon N, Teles EL, Miranda MCS, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Yu ZF, Swiedler SJ, Decker C; MPS VI Study Group. Harmatz P, et al. Among authors: giugliani r. Mol Genet Metab. 2008 Aug;94(4):469-475. doi: 10.1016/j.ymgme.2008.04.001. Epub 2008 May 23. Mol Genet Metab. 2008. PMID: 18502162 Clinical Trial.
574 results