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Precision Medicine for Lysosomal Disorders.
Pinto E Vairo F, Rojas Málaga D, Kubaski F, Fischinger Moura de Souza C, de Oliveira Poswar F, Baldo G, Giugliani R. Pinto E Vairo F, et al. Among authors: rojas malaga d. Biomolecules. 2020 Jul 26;10(8):1110. doi: 10.3390/biom10081110. Biomolecules. 2020. PMID: 32722587 Free PMC article. Review.
Diagnosis of Mucopolysaccharidoses.
Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, Burin MG, Rojas-Málaga D, Brusius-Facchin AC, Leistner-Segal S, Giugliani R. Kubaski F, et al. Among authors: rojas malaga d. Diagnostics (Basel). 2020 Mar 22;10(3):172. doi: 10.3390/diagnostics10030172. Diagnostics (Basel). 2020. PMID: 32235807 Free PMC article. Review.
Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil.
Bravo H, Neto EC, Schulte J, Pereira J, Filho CS, Bittencourt F, Sebastião F, Bender F, de Magalhães APS, Guidobono R, Trapp FB, Michelin-Tirelli K, Souza CFM, Rojas Málaga D, Pasqualim G, Brusius-Facchin AC, Giugliani R. Bravo H, et al. Among authors: rojas malaga d. Mol Genet Metab Rep. 2017 Jul 4;12:92-97. doi: 10.1016/j.ymgmr.2017.06.006. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28721335 Free PMC article.
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
Guevara-Fujita ML, Huaman-Dianderas F, Obispo D, Sánchez R, Barrenechea V, Rojas-Málaga D, Estrada-Cuzcano A, Trubnykova M, Cornejo-Olivas M, Marca V, Gallardo B, Dueñas-Roque M, Protzel A, Castañeda C, Abarca H, Celis L, La Serna-Infantes J, Fujita R. Guevara-Fujita ML, et al. Among authors: rojas malaga d. Mol Genet Genomic Med. 2021 Sep;9(9):e1759. doi: 10.1002/mgg3.1759. Epub 2021 Jul 29. Mol Genet Genomic Med. 2021. PMID: 34327855 Free PMC article.
Impact of genetic background as a risk factor for atherosclerotic cardiovascular disease: A protocol for a nationwide genetic case-control (CV-GENES) study in Brazil.
Alves de Oliveira H Junior, de Menezes Neves PDM, de Figueiredo Oliveira GB, Moreira FR, Pintão MCT, Rocha VZ, de Souza Rocha C, Katz VN, Ferreira EN, Rojas-Málaga D, Viana CF, da Silva FF, Vidotti JJ, Felicio NM, de Araújo Vitor L, Cesar KG, Araújo da Silva C, de Oliveira Alves LB, Avezum Á. Alves de Oliveira H Junior, et al. Among authors: rojas malaga d. PLoS One. 2024 Mar 13;19(3):e0289439. doi: 10.1371/journal.pone.0289439. eCollection 2024. PLoS One. 2024. PMID: 38478535 Free PMC article.