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Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's profile submitted to phlebotomy in two reference centers in southern Brazil.
Kersting N, Fontana JC, Athayde FP, Carlotto FM, Machado BA, Araújo CDSR, Sekine L, Onsten TGH, Leistner-Segal S. Kersting N, et al. Among authors: leistner segal s. Genet Mol Biol. 2023 May 22;46(2):e20220230. doi: 10.1590/1678-4685-GMB-2022-0230. eCollection 2023. Genet Mol Biol. 2023. PMID: 37216649 Free PMC article.
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.
Kubaski F, Herbst ZM, Burin MG, Michelin-Tirelli K, Trapp FB, Gus R, Netto ABO, Brusius-Facchin AC, Leistner-Segal S, Sanseverino MT, de Souza CMF, Wilke MVMB, Oliveira T, Magalhães JAA, Giugliani R. Kubaski F, et al. Among authors: leistner segal s. JIMD Rep. 2022 Jan 19;63(2):162-167. doi: 10.1002/jmd2.12270. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281662 Free PMC article.
Methylation of BDNF and SLC6A4 Gene Promoters in Brazilian Patients With Temporal Lobe Epilepsy Presenting or Not Psychiatric Comorbidities.
Bandeira IC, Giombelli L, Werlang IC, Abujamra AL, Secchi TL, Brondani R, Bragatti JA, Bizzi JWJ, Leistner-Segal S, Bianchin MM. Bandeira IC, et al. Among authors: leistner segal s. Front Integr Neurosci. 2021 Nov 29;15:764742. doi: 10.3389/fnint.2021.764742. eCollection 2021. Front Integr Neurosci. 2021. PMID: 34912196 Free PMC article.
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Montenegro YHA, de Souza CFM, Kubaski F, Trapp FB, Burin MG, Michelin-Tirelli K, Leistner-Segal S, Facchin ACB, Medeiros FS, Giugliani L, Ribeiro EM, Lourenço CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embiruçu EK, Steiner CE, Moreira MLC, Montano HQ, Baldo G, Giugliani R. Montenegro YHA, et al. Among authors: leistner segal s. Am J Med Genet A. 2022 Mar;188(3):760-767. doi: 10.1002/ajmg.a.62572. Epub 2021 Nov 22. Am J Med Genet A. 2022. PMID: 34806811
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.
Dos Santos-Lopes SS, de Oliveira JMF, de Queiroga Nascimento D, Montenegro YHA, Leistner-Segal S, Brusius-Facchin AC, Eufrazino Gondim C, Giugliani R, de Medeiros PFV. Dos Santos-Lopes SS, et al. Among authors: leistner segal s. Am J Med Genet A. 2021 Oct;185(10):2929-2940. doi: 10.1002/ajmg.a.62375. Epub 2021 Jun 2. Am J Med Genet A. 2021. PMID: 34076347
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Josahkian JA, Brusius-Facchin AC, Netto ABO, Leistner-Segal S, Málaga DR, Burin MG, Michelin-Tirelli K, Trapp FB, Cardoso-Dos-Santos AC, Ribeiro EM, Kim CA, de Siqueira ACM, Santos ML, do Valle DA, da Silva RTB, Horovitz DDG, de Medeiros PFV, de Souza CFM, Giuliani LR, Miguel DSCG, Santana-da-Silva LC, Galera MF, Giugliani R. Josahkian JA, et al. Among authors: leistner segal s. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):349-356. doi: 10.1002/ajmg.c.31915. Epub 2021 May 7. Am J Med Genet C Semin Med Genet. 2021. PMID: 33960103
Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil.
Dick-Guareschi J, Fontana JC, Sanseverino MTV, Kubaski F, Sekine L, Mesquita NF, Onsten TGH, Leistner-Segal S. Dick-Guareschi J, et al. Among authors: leistner segal s. Hematol Transfus Cell Ther. 2022 Jul-Sep;44(3):379-385. doi: 10.1016/j.htct.2021.01.010. Epub 2021 Mar 16. Hematol Transfus Cell Ther. 2022. PMID: 33775585 Free PMC article.
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions.
Josahkian JA, Trapp FB, Burin MG, Michelin-Tirelli K, Magalhães APPS, Sebastião FM, Bender F, Mari JF, Brusius-Facchin AC, Leistner-Segal S, Málaga DR, Giugliani R. Josahkian JA, et al. Among authors: leistner segal s. Genet Mol Biol. 2021 Jan 27;44(1):e20200138. doi: 10.1590/1678-4685-GMB-2020-0138. eCollection 2021. Genet Mol Biol. 2021. PMID: 33503199 Free PMC article.
80 results