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Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.
Giugliani R, Villarreal ML, Valdez CA, Hawilou AM, Guelbert N, Garzón LN, Martins AM, Acosta A, Cabello JF, Lemes A, Santos ML, Amartino H. Giugliani R, et al. Among authors: santos ml. Genet Mol Biol. 2014 Jun;37(2):315-29. doi: 10.1590/s1415-47572014000300003. Genet Mol Biol. 2014. PMID: 25071396 Free PMC article. Review.
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. 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.
Neurodevelopmental disorder associated with gene ARF3: A case report.
Dos Santos Henrique S, França MJ, Silva Junior RC, Santos MLSF, do Valle DA. Dos Santos Henrique S, et al. Among authors: santos mlsf. Am J Med Genet A. 2024 May 7:e63658. doi: 10.1002/ajmg.a.63658. Online ahead of print. Am J Med Genet A. 2024. PMID: 38712921
X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES.
Furlan FLS, Lemes MA, Suguimatsu LCF, Pires CTF, Santos MLSF. Furlan FLS, et al. Rev Paul Pediatr. 2019 Jun 19;37(4):465-471. doi: 10.1590/1984-0462/;2019;37;4;00015. eCollection 2019. Rev Paul Pediatr. 2019. PMID: 31241695 Free PMC article.
397 results