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205 results

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Is the gut microbiota dysbiotic in patients with classical homocystinuria?
Rizowy GM, Poloni S, Colonetti K, Donis KC, Dobbler PT, Leistner-Segal S, Roesch LFW, Schwartz IVD. Rizowy GM, et al. Among authors: schwartz ivd. Biochimie. 2020 Jun;173:3-11. doi: 10.1016/j.biochi.2020.02.013. Epub 2020 Feb 24. Biochimie. 2020. PMID: 32105814
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations.
de Camargo Pinto LL, Maluf SW, Leistner-Segal S, Zimmer da Silva C, Brusius-Facchin A, Burin MG, Brustolin S, Llerena J, Moraes L, Vedolin L, Schuch A, Giugliani R, Schwartz IV. de Camargo Pinto LL, et al. Am J Med Genet A. 2011 Jan;155A(1):50-7. doi: 10.1002/ajmg.a.33770. Am J Med Genet A. 2011. PMID: 21204210
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.
Brusius-Facchin AC, Abrahão L, Schwartz IV, Lourenço CM, Santos ES, Zanetti A, Tomanin R, Scarpa M, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Gene. 2013 Sep 10;526(2):150-4. doi: 10.1016/j.gene.2013.05.007. Epub 2013 May 21. Gene. 2013. PMID: 23707223
Hepatic glycogen storage diseases are associated to microbial dysbiosis.
Colonetti K, Bento Dos Santos B, Nalin T, Moura de Souza CF, Triplett EW, Dobbler PT, Schwartz IVD, Roesch LFW. Colonetti K, et al. Among authors: schwartz ivd. PLoS One. 2019 Apr 2;14(4):e0214582. doi: 10.1371/journal.pone.0214582. eCollection 2019. PLoS One. 2019. PMID: 30939160 Free PMC article.
Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.
Vieira TA, Trapp FB, Souza CFM, Faccini LS, Jardim LB, Schwartz IVD, Riegel M, Vargas CR, Burin MG, Leistner-Segal S, Ashton-Prolla P, Giugliani R. Vieira TA, et al. Among authors: schwartz ivd. Genet Mol Biol. 2019;42(1 suppl 1):155-164. doi: 10.1590/1678-4685-GMB-2018-0214. Epub 2019 Jun 10. Genet Mol Biol. 2019. PMID: 31188934 Free PMC article.
Ocular manifestations in classic homocystinuria.
Gus PI, Donis KC, Marinho D, Martins TF, de Souza CFM, Carloto RB, Leivas G, Schwartz IVD. Gus PI, et al. Among authors: schwartz ivd. Ophthalmic Genet. 2021 Feb;42(1):71-74. doi: 10.1080/13816810.2020.1821384. Epub 2020 Sep 17. Ophthalmic Genet. 2021. PMID: 32940091
Cardiovascular findings in classic homocystinuria.
Kalil MAB, Donis KC, Poswar FO, Dos Santos BB, Santos ÂBS, Schwartz IVD. Kalil MAB, et al. Among authors: schwartz ivd. Mol Genet Metab Rep. 2020 Dec 10;25:100693. doi: 10.1016/j.ymgmr.2020.100693. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33335839 Free PMC article.
Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.
Poloni S, Dos Santos BB, Chiesa A, Specola N, Pereyra M, Saborío-Rocafort M, Salazar MF, Leal-Witt MJ, Castro G, Peñaloza F, Wong SP, Porras RB, Paranza LO, Sanabria MC, Amieva MV, Morales M, Naranjo ARC, Mahfoud A, Colmenares AR, Lemes A, Sotillo-Lindo JF, Perez C, Rey LM, Torriente GMZ, Refosco LF, Schwartz IVD, Cornejo V. Poloni S, et al. Among authors: schwartz ivd. Nutrients. 2021 Jul 27;13(8):2566. doi: 10.3390/nu13082566. Nutrients. 2021. PMID: 34444728 Free PMC article.
205 results