Sandra Leistner-Segal
11PUBLICATIONS
39CO-AUTHORS
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Publications (11)
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|Oct 03, 2024
Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Brazilian patient: case report.Daniela P Laureano, Vitória Kirjner, Lethicia C Ferraro
|May 22, 2023
Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's profile submitted to phlebotomy in two reference centers in southern Brazil.Nathalia Kersting, Juliana Cristine Fontana, Fabiane Pohlmann de Athayde
|Jun 02, 2021
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.Simone Silva Dos Santos-Lopes, Jessica Maria Florêncio de Oliveira, Denise de Queiroga Nascimento
|May 07, 2021
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.Juliana Alves Josahkian, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto
|Jan 27, 2021
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions.Juliana Alves Josahkian, Franciele Barbosa Trapp, Maira Graeff Burin
|Apr 03, 2020
Diagnosis of Mucopolysaccharidoses.Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli
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Frequent Collaborators
5 joint publications
Roberto Giugliani
2 joint publications
Paula Frassinetti Vasconcelos de Medeiros
2 joint publications
Ana Carolina Brusius-Facchin
2 joint publications
Juliana Alves Josahkian
2 joint publications
Diana Rojas-Málaga
2 joint publications
Maira Graeff Burin
1 joint publications
Guilherme Guaragna-Filho
1 joint publications
Leo Sekine
1 joint publications
Lavínia Schuler Faccini
1 joint publications
Laura Bannach Jardim
