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142 results

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Page 1
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.
Artigalás O, Lagranha VL, Saraiva-Pereira ML, Burin MG, Lourenço CM, van der Linden H Jr, Santos ML, Rosemberg S, Steiner CE, Kok F, de Souza CF, Jardim LB, Giugliani R, Schwartz IV. Artigalás O, et al. Among authors: lourenco cm. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S257-62. doi: 10.1007/s10545-010-9140-4. Epub 2010 Jul 2. J Inherit Metab Dis. 2010. PMID: 20596894
[Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts].
Giugliani R, Federhen A, Muñoz Rojas MV, Vieira TA, Artigalás O, Pinto LL, Azevedo AC, Acosta AX, Bomfim C, Lourenço CM, Kim CA, Horovitz D, Souza DB, Norato D, Marinho D, Palhares D, Santos ES, Ribeiro E, Valadares ER, Guarany F, De Lucca GR, Pimentel H, Souza IN, Corrêa Neto J, Fraga JC, Góes JE, Cabral JM, Simeonato J, Llerena JC Jr, Jardim LB, Giuliani Lde R, Silva LC, Santos M, Moreira MA, Kerstenetzky M, Ribeiro M, Ruas N, Barrios P, Aranda P, Honjo R, Boy R, Costa R, Souza CF, Alcântara FF, Avilla SG, Fagondes S, Martins AM. Giugliani R, et al. Among authors: lourenco cm. Rev Assoc Med Bras (1992). 2010 May-Jun;56(3):271-7. doi: 10.1590/s0104-42302010000300009. Rev Assoc Med Bras (1992). 2010. PMID: 20676532 Free article. Portuguese.
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.
Pereira Fdos S, Matte U, Habekost CT, de Castilhos RM, El Husny AS, Lourenço CM, Vianna-Morgante AM, Giuliani L, Galera MF, Honjo R, Kim CA, Politei J, Vargas CR, Jardim LB. Pereira Fdos S, et al. Among authors: lourenco cm. PLoS One. 2012;7(3):e34195. doi: 10.1371/journal.pone.0034195. Epub 2012 Mar 29. PLoS One. 2012. PMID: 22479560 Free PMC article.
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.
Brusius-Facchin AC, Abrahão L, Schwartz IV, Lourenço CM, Santos ES, Zanetti A, Tomanin R, Scarpa M, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Among authors: lourenco cm. Gene. 2013 Sep 10;526(2):150-4. doi: 10.1016/j.gene.2013.05.007. Epub 2013 May 21. Gene. 2013. PMID: 23707223
Niemann-Pick disease type C: a case series of Brazilian patients.
Lorenzoni PJ, Cardoso E, Crippa AC, Lourenço CM, Souza FT, Giugliani R, Saraiva-Pereira ML, Raskin S, Bruck I, Kay CS, Scola RH, Werneck LC, Teive HA. Lorenzoni PJ, et al. Among authors: lourenco cm. Arq Neuropsiquiatr. 2014 Mar;72(3):214-8. doi: 10.1590/0004-282x20130249. Arq Neuropsiquiatr. 2014. PMID: 24676439 Free article.
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.
Dornelles AD, de Camargo Pinto LL, de Paula AC, Steiner CE, Lourenço CM, Kim CA, Horovitz DD, Ribeiro EM, Valadares ER, Goulart I, Neves de Souza IC, da Costa Neri JI, Santana-da-Silva LC, Silva LR, Ribeiro M, de Oliveira Sobrinho RP, Giugliani R, Schwartz IV. Dornelles AD, et al. Among authors: lourenco cm. Genet Mol Biol. 2014 Mar;37(1):23-9. doi: 10.1590/s1415-47572014000100006. Epub 2013 Feb 28. Genet Mol Biol. 2014. PMID: 24688287 Free PMC article.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Germain DP, et al. Among authors: lourenco cm. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. N Engl J Med. 2016. PMID: 27509102 Free article. Clinical Trial.
Clinical findings in Brazilian patients with adult GM1 gangliosidosis.
Giugliani L, Steiner CE, Kim CA, Lourenço CM, Santos MLSF, de Souza CFM, Brusius-Facchin AC, Baldo G, Riegel M, Giugliani R. Giugliani L, et al. Among authors: lourenco cm. JIMD Rep. 2019 Jul 17;49(1):96-106. doi: 10.1002/jmd2.12067. eCollection 2019 Sep. JIMD Rep. 2019. PMID: 31497487 Free PMC article.
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Vite CH, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Bodamer O, Wang RY, Plummer E, Schaffer JE, Ory DS, Jiang X. Sidhu R, et al. Among authors: lourenco cm. Mol Genet Metab. 2020 Apr;129(4):292-302. doi: 10.1016/j.ymgme.2020.01.007. Epub 2020 Jan 22. Mol Genet Metab. 2020. PMID: 32033912 Free PMC article.
142 results