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Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America.
Solano M, Fainboim A, Politei J, Porras-Hurtado GL, Martins AM, Souza CFM, Koch FM, Amartino H, Satizábal JM, Horovitz DDG, Medeiros PFV, Honjo RS, Lourenço CM. Solano M, et al. Among authors: souza cfm. Mol Genet Metab Rep. 2020 Feb 27;23:100572. doi: 10.1016/j.ymgmr.2020.100572. eCollection 2020 Jun. Mol Genet Metab Rep. 2020. PMID: 32140416 Free PMC article.
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.
Giugliani R, Federhen A, Rojas MV, Vieira T, Artigalás O, Pinto LL, Azevedo AC, Acosta A, Bonfim C, Lourenço CM, Kim CA, Horovitz D, Bonfim D, Norato D, Marinho D, Palhares D, Santos ES, Ribeiro E, Valadares E, Guarany F, de Lucca GR, Pimentel H, de Souza IN, Correa J Sr, Fraga JC, Goes JE, Cabral JM, Simionato J, Llerena J Jr, Jardim L, Giuliani L, da Silva LC, Santos ML, Moreira MA, Kerstenetzky M, Ribeiro M, Ruas N, Barrios P, Aranda P, Honjo R, Boy R, Costa R, Souza C, Alcantara FF, Avilla SG, Fagondes S, Martins AM. Giugliani R, et al. Genet Mol Biol. 2010 Oct;33(4):589-604. doi: 10.1590/S1415-47572010005000093. Epub 2010 Dec 1. Genet Mol Biol. 2010. PMID: 21637564 Free PMC article.
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Montenegro YHA, Kubaski F, Trapp FB, Riegel-Giugliani M, Souza CFM, Ribeiro EM, Lourenço CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embiruçu EK, Steiner CE, Vairo FPE, Baldo G, Giugliani R, Poswar FO. Montenegro YHA, et al. Among authors: souza cfm. Genet Mol Biol. 2024 Mar 8;47(1):e20230285. doi: 10.1590/1678-4685-GMB-2023-0285. eCollection 2024. Genet Mol Biol. 2024. PMID: 38488524 Free PMC article.
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Tolezano GC, Bastos GC, da Costa SS, Scliar MO, de Souza CFM, Van Der Linden H Jr, Fernandes WLM, Otto PA, Vianna-Morgante AM, Haddad LA, Honjo RS, Yamamoto GL, Kim CA, Rosenberg C, Jorge AAL, Bertola DR, Krepischi ACV. Tolezano GC, et al. Among authors: de souza cfm. Mol Neurobiol. 2024 Jan 5. doi: 10.1007/s12035-023-03894-8. Online ahead of print. Mol Neurobiol. 2024. PMID: 38180615
Leigh syndrome global patient registry: uniting patients and researchers worldwide.
Zilber S, Woleben K, Johnson SC, de Souza CFM, Boyce D, Freiert K, Boggs C, Messahel S, Burnworth MJ, Afolabi TM, Kayani S. Zilber S, et al. Among authors: de souza cfm. Orphanet J Rare Dis. 2023 Sep 4;18(1):264. doi: 10.1186/s13023-023-02886-0. Orphanet J Rare Dis. 2023. PMID: 37667390 Free PMC article.
Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review.
Portich JP, Ribeiro AS, Rodrigues Taniguchi AN, Backes A, de Souza CFM, Kieling CO, Scherer FF, de Oliveira Poswar F, Leipnitz I, Doederlein Schwartz IV, Sekine L, Rigoni LDC, Marquardt da Silveira L, de Almeida Furlanetto M, Adami MR, Breunig RC, Guedes RR, do Amaral SN, Gonçalves Vieira SM, de Brum Soares T, Silva TO, da Rocha Silla LM, Astigarraga CC, Paz AA, Daudt LE. Portich JP, et al. Among authors: de souza cfm. J Pediatr Hematol Oncol. 2023 Oct 1;45(7):416-422. doi: 10.1097/MPH.0000000000002738. Epub 2023 Aug 3. J Pediatr Hematol Oncol. 2023. PMID: 37539993 Review.
83 results