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Page 1
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
Llerena J Jr, Kim CA, Fano V, Rosselli P, Collett-Solberg PF, de Medeiros PFV, Del Pino M, Bertola D, Lourenço CM, Cavalcanti DP, Félix TM, Rosa-Bellas A, Rossi NT, Cortes F, Abreu F, Cavalcanti N, Ruz MCH, Baratela W. Llerena J Jr, et al. Among authors: lourenco cm. BMC Pediatr. 2022 Aug 19;22(1):492. doi: 10.1186/s12887-022-03505-w. BMC Pediatr. 2022. PMID: 35986266 Free PMC article.
[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.
Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes.
D'Angelo CS, Varela MC, de Castro CIe, Kim CA, Bertola DR, Lourenço CM, Perez AB, Koiffmann CP. D'Angelo CS, et al. Among authors: lourenco cm. Mol Cytogenet. 2014 Oct 31;7(1):75. doi: 10.1186/s13039-014-0075-6. eCollection 2014. Mol Cytogenet. 2014. PMID: 25411582 Free PMC article.
Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries.
Kelmann SV, Quaio CR, Honjo RS, Bertola DR, Rosa Neto NS, Lourenço CM, d'Almeida V, Lellis RF, Rivitti-Machado MC, Enokihara MM, Michalany NS, Kim CA. Kelmann SV, et al. Among authors: lourenco cm. Int J Dermatol. 2015 Jun;54(6):e241-4. doi: 10.1111/ijd.12713. Epub 2015 Mar 16. Int J Dermatol. 2015. PMID: 25778427 No abstract available.
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.
141 results