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Page 1
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI.
Horovitz DD, Magalhães TS, Acosta A, Ribeiro EM, Giuliani LR, Palhares DB, Kim CA, de Paula AC, Kerstenestzy M, Pianovski MA, Costa MI, Santos FC, Martins AM, Aranda CS, Correa Neto J, Holanda GB, Cardoso L Jr, da Silva CA, Bonatti RC, Ribeiro BF, Rodrigues Mdo C, Llerena JC Jr. Horovitz DD, et al. Among authors: giuliani lr. Mol Genet Metab. 2013 May;109(1):62-9. doi: 10.1016/j.ymgme.2013.02.014. Epub 2013 Mar 5. Mol Genet Metab. 2013. PMID: 23535281 Free article.
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.
Horovitz DDG, Leão EKEA, Ribeiro EM, Martins AM, Barth AL, Neri JICF, Kerstenetzky M, Siqueira ACM, Ribeiro BFR, Kim CA, Santos FC, Franco JFS, Lichtvan LCL, Giuliani LR, Rodrigues MDCS, Bonatti RCF, Teixeira TB, Gonçalves A, Lourenço CM, Pereira ASS, Acosta AX. Horovitz DDG, et al. Among authors: giuliani lr. Mol Genet Metab. 2021 May;133(1):94-99. doi: 10.1016/j.ymgme.2021.02.006. Epub 2021 Feb 27. Mol Genet Metab. 2021. PMID: 33678523 Free article.
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.
Giugliani R, Federhen A, Rojas MV, Vieira T, Artigalás O, Pinto LL, Azevedo AC, Acosta A, Bonfim C, Lourenço CM, Kim CA, Horovitz D, Bonfim D, Norato D, Marinho D, Palhares D, Santos ES, Ribeiro E, Valadares E, Guarany F, de Lucca GR, Pimentel H, de Souza IN, Correa J Sr, Fraga JC, Goes JE, Cabral JM, Simionato J, Llerena J Jr, Jardim L, Giuliani L, da Silva LC, Santos ML, Moreira MA, Kerstenetzky M, Ribeiro M, Ruas N, Barrios P, Aranda P, Honjo R, Boy R, Costa R, Souza C, Alcantara FF, Avilla SG, Fagondes S, Martins AM. Giugliani R, et al. Genet Mol Biol. 2010 Oct;33(4):589-604. doi: 10.1590/S1415-47572010005000093. Epub 2010 Dec 1. Genet Mol Biol. 2010. PMID: 21637564 Free PMC article.
Splenopancreatic field abnormality is not unique to trisomy 13.
Peres LC, Barbosa GH, Careta RS, Nassif CM, de Pina-Neto JM, Giuliani LR, Martinhago CD, Gomy I. Peres LC, et al. Among authors: giuliani lr. Pediatr Dev Pathol. 2004 Jan-Feb;7(1):91-4. doi: 10.1007/s10024-003-6067-x. Pediatr Dev Pathol. 2004. PMID: 15255041
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants.
Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, de Scliar MO, Giuliani LR, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Chaves LD, et al. Among authors: giuliani lr. Mol Neurobiol. 2023 Jul;60(7):3758-3769. doi: 10.1007/s12035-023-03311-0. Epub 2023 Mar 21. Mol Neurobiol. 2023. PMID: 36943625
Rare and intractable fibrodysplasia ossificans progressiva shows different PBMC phenotype possibly modulated by ascorbic acid and propranolol treatment.
Nascimento DR, Balaniuc SLB, Palhares DB, Underwood A, Palhares MG, Alves F, Vieira FO, Souza-Fagundes EM, Giuliani LR, Xavier PCN, Puerto HLD, Santos RAS, Milsted A, Brum JM, Silva IS, Martins AS. Nascimento DR, et al. Among authors: giuliani lr. Intractable Rare Dis Res. 2021 Aug;10(3):179-189. doi: 10.5582/irdr.2021.01012. Intractable Rare Dis Res. 2021. PMID: 34466340 Free PMC article.
11 results