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Year Number of Results
2014 1
2015 1
2018 1
2020 5
2021 1
2022 1
2023 2
2024 0

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11 results

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Page 1
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: de oliveira poswar f. Diagnostics (Basel). 2020 Mar 22;10(3):172. doi: 10.3390/diagnostics10030172. Diagnostics (Basel). 2020. PMID: 32235807 Free PMC article. Review.
Mucopolysaccharidosis Type I.
Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, Matte UDS, Horovitz DD, Barth AL, Baldo G, Vairo F, Giugliani R. Kubaski F, et al. Among authors: de oliveira poswar f. Diagnostics (Basel). 2020 Mar 16;10(3):161. doi: 10.3390/diagnostics10030161. Diagnostics (Basel). 2020. PMID: 32188113 Free PMC article. Review.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Kozycki CT, et al. Among authors: de oliveira poswar f. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22. Ann Rheum Dis. 2022. PMID: 35868845 Free PMC article.
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: de oliveira poswar f. Biomolecules. 2020 Jul 26;10(8):1110. doi: 10.3390/biom10081110. Biomolecules. 2020. PMID: 32722587 Free PMC article. Review.
Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease).
Kubaski F, Vairo F, Baldo G, de Oliveira Poswar F, Corte AD, Giugliani R. Kubaski F, et al. Among authors: de oliveira poswar f. Curr Pharm Des. 2020;26(40):5100-5109. doi: 10.2174/1381612826666200724161504. Curr Pharm Des. 2020. PMID: 33138761 Review.
Genome editing in lysosomal disorders.
Pimentel-Vera LN, Poletto E, Gonzalez EA, de Oliveira Poswar F, Giugliani R, Baldo G. Pimentel-Vera LN, et al. Among authors: de oliveira poswar f. Prog Mol Biol Transl Sci. 2021;182:289-325. doi: 10.1016/bs.pmbts.2021.02.001. Epub 2021 Feb 22. Prog Mol Biol Transl Sci. 2021. PMID: 34175045
A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2).
Melo A, de Carvalho LM, Ferriani VPL, Cavalcanti A, Appenzeller S, Oliveira VR, Neto HC, Rosário NA, de Oliveira Poswar F, Guimaraes MX, Kokron CM, Maia RE, Silva GD, Keller G, Ferreira MD, Vasconcelos DM, Toledo-Barros MAM, Barros SF, Neto NSR, Krieger MH, Kalil J, Mendonça LO. Melo A, et al. Among authors: de oliveira poswar f. Adv Rheumatol. 2023 May 22;63(1):23. doi: 10.1186/s42358-023-00303-5. Adv Rheumatol. 2023. PMID: 37217999
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 oliveira poswar f. 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.
Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome.
Cardoso-Dos-Santos AC, Oliveira Silva T, Silveira Faccini A, Woycinck Kowalski T, Bertoli-Avella A, Morales Saute JA, Schuler-Faccini L, de Oliveira Poswar F. Cardoso-Dos-Santos AC, et al. Among authors: de oliveira poswar f. Mol Syndromol. 2020 Feb;11(1):24-29. doi: 10.1159/000505843. Epub 2020 Feb 1. Mol Syndromol. 2020. PMID: 32256298 Free PMC article.
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial.
Giugliani R, Giugliani L, de Oliveira Poswar F, Donis KC, Corte AD, Schmidt M, Boado RJ, Nestrasil I, Nguyen C, Chen S, Pardridge WM. Giugliani R, et al. Among authors: de oliveira poswar f. Orphanet J Rare Dis. 2018 Jul 5;13(1):110. doi: 10.1186/s13023-018-0849-8. Orphanet J Rare Dis. 2018. PMID: 29976218 Free PMC article. Clinical Trial.
11 results