Giugliani R - Search Results

1

A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.

Vernet Machado Bressan Wilke M, Iop GD, Faqueti L, Lemos da Silva LA, Kubaski F, Poswar FO, Michelin-Tirelli K, Randon D, Borelli WV, Giugliani R, Schwartz IVD. Vernet Machado Bressan Wilke M, et al. Among authors: giugliani r. Int J Mol Sci. 2024 Mar 1;25(5):2870. doi: 10.3390/ijms25052870. Int J Mol Sci. 2024. PMID: 38474117 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

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

4

Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI.

John A, Fagondes S, Schwartz I, Azevedo AC, Barrios P, Dalcin P, Menna-Barreto S, Giugliani R. John A, et al. Among authors: giugliani r. Am J Med Genet A. 2011 Jul;155A(7):1546-51. doi: 10.1002/ajmg.a.33902. Epub 2011 Jun 2. Am J Med Genet A. 2011. PMID: 21638759

5

Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.

Giugliani L, Sitta A, Vargas CR, Santana-da-Silva LC, Nalin T, Saraiva-Pereira ML, Giugliani R, Schwartz IV. Giugliani L, et al. Among authors: giugliani r. J Pediatr (Rio J). 2011 May-Jun 8;87(3):245-51. doi: 10.2223/JPED.2090. J Pediatr (Rio J). 2011. PMID: 21660367 English, Portuguese.

6

Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy.

Viana GM, de Lima NO, Cavaleiro R, Alves E, Souza IC, Feio R, Leistner-Segal S, Schwartz I, Giugliani R, da Silva LC. Viana GM, et al. Among authors: giugliani r. Genet Mol Biol. 2011 Jul;34(3):410-5. doi: 10.1590/S1415-47572011005000025. Epub 2011 Jul 1. Genet Mol Biol. 2011. PMID: 21931511 Free PMC article.

7

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

8

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.

Brusius-Facchin AC, De Souza CF, Schwartz IV, Riegel M, Melaragno MI, Correia P, Moraes LM, Llerena J Jr, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Among authors: giugliani r. Am J Med Genet A. 2012 May;158A(5):1055-9. doi: 10.1002/ajmg.a.35271. Epub 2012 Apr 10. Am J Med Genet A. 2012. PMID: 22492741

9

Functional capacity evaluation of patients with mucopolysaccharidosis.

Guarany NR, Schwartz IV, Guarany FC, Giugliani R. Guarany NR, et al. Among authors: giugliani r. J Pediatr Rehabil Med. 2012;5(1):37-46. doi: 10.3233/PRM-2012-0194. J Pediatr Rehabil Med. 2012. PMID: 22543891

10

Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI.

Azevedo AC, Artigalás O, Vedolin L, Komlós M, Pires A, Giugliani R, Schwartz IV. Azevedo AC, et al. Among authors: giugliani r. J Inherit Metab Dis. 2013 Mar;36(2):357-62. doi: 10.1007/s10545-012-9559-x. Epub 2012 Nov 21. J Inherit Metab Dis. 2013. PMID: 23179553

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