Giugliani R - Search Results

1

Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses.

Shimada T, Kelly J, LaMarr WA, van Vlies N, Yasuda E, Mason RW, Mackenzie W, Kubaski F, Giugliani R, Chinen Y, Yamaguchi S, Suzuki Y, Orii KE, Fukao T, Orii T, Tomatsu S. Shimada T, et al. Among authors: giugliani r. Mol Genet Metab. 2014 Sep-Oct;113(1-2):92-9. doi: 10.1016/j.ymgme.2014.07.008. Epub 2014 Jul 21. Mol Genet Metab. 2014. PMID: 25092413 Free PMC article.

2

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

Matte U, Yogalingam G, Brooks D, Leistner S, Schwartz I, Lima L, Norato DY, Brum JM, Beesley C, Winchester B, Giugliani R, Hopwood JJ. Matte U, et al. Among authors: giugliani r. Mol Genet Metab. 2003 Jan;78(1):37-43. doi: 10.1016/s1096-7192(02)00200-7. Mol Genet Metab. 2003. PMID: 12559846

3

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

4

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

5

Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?

Vieira T, Schwartz I, Muñoz V, Pinto L, Steiner C, Ribeiro M, Boy R, Ferraz V, de Paula A, Kim C, Acosta A, Giugliani R. Vieira T, et al. Among authors: giugliani r. Am J Med Genet A. 2008 Jul 1;146A(13):1741-7. doi: 10.1002/ajmg.a.32320. Am J Med Genet A. 2008. PMID: 18546277

6

A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I.

Giugliani R, Rojas VM, Martins AM, Valadares ER, Clarke JT, Góes JE, Kakkis ED, Worden MA, Sidman M, Cox GF. Giugliani R, et al. Mol Genet Metab. 2009 Jan;96(1):13-9. doi: 10.1016/j.ymgme.2008.10.009. Epub 2008 Nov 26. Mol Genet Metab. 2009. PMID: 19038563 Clinical Trial.

7

Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.

Muñoz-Rojas MV, Horovitz DD, Jardim LB, Raymundo M, Llerena JC Jr, de Magalhães Tde S, Vieira TA, Costa R, Kakkis E, Giugliani R. Muñoz-Rojas MV, et al. Among authors: giugliani r. Mol Genet Metab. 2010 Apr;99(4):346-50. doi: 10.1016/j.ymgme.2009.11.008. Epub 2009 Dec 5. Mol Genet Metab. 2010. PMID: 20036175

8

Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI.

Baldo G, Matte U, Artigalas O, Schwartz IV, Burin MG, Ribeiro E, Horovitz D, Magalhaes TP, Elleder M, Giugliani R. Baldo G, et al. Among authors: giugliani r. Mol Genet Metab. 2011 Jun;103(2):197-8. doi: 10.1016/j.ymgme.2011.03.002. Epub 2011 Mar 22. Mol Genet Metab. 2011. PMID: 21427013

9

Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples.

Camelier MV, Burin MG, De Mari J, Vieira TA, Marasca G, Giugliani R. Camelier MV, et al. Among authors: giugliani r. Clin Chim Acta. 2011 Sep 18;412(19-20):1805-8. doi: 10.1016/j.cca.2011.06.001. Epub 2011 Jun 12. Clin Chim Acta. 2011. PMID: 21684269 Free article.

10

Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil.

Costa-Motta FM, Acosta AX, Abé-Sandes K, Bender F, Schwartz IV, Giugliani R, Leistner-Segal S. Costa-Motta FM, et al. Among authors: giugliani r. Mol Genet Metab. 2011 Dec;104(4):603-7. doi: 10.1016/j.ymgme.2011.09.017. Epub 2011 Sep 20. Mol Genet Metab. 2011. PMID: 21996138

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