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Precision Medicine for Lysosomal Disorders.
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.
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Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses.
Brusius-Facchin AC, Rojas Malaga D, Leistner-Segal S, Giugliani R.
Brusius-Facchin AC, et al. Among authors: rojas malaga d.
Expert Rev Mol Diagn. 2018 Oct;18(10):855-866. doi: 10.1080/14737159.2018.1523722. Epub 2018 Sep 26.
Expert Rev Mol Diagn. 2018.
PMID: 30222014
Review.
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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.
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Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?
Rojas Malaga D, Leistner-Segal S, Brusius-Facchin AC.
Rojas Malaga D, et al.
Ital J Pediatr. 2019 May 14;45(1):60. doi: 10.1186/s13052-019-0657-3.
Ital J Pediatr. 2019.
PMID: 31088528
Free PMC article.
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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.
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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.
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