Sandra Leistner-Segal
Universidade Federal do Rio Grande do Sul
H-index: 27
Latin America-Brazil
Top articles of Sandra Leistner-Segal
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)
2024/2/21
Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient’s profile submitted to phlebotomy in two reference centers in southern …
Genetics and molecular biology
2023/5/22
A Brazilian patient with late infantile metachromatic leukodystrophy treated with lentiviral hematopoietic stem-cell gene therapy: A report from prenatal diagnosis to early …
Molecular Genetics and Metabolism
2023/2/1
Prenatal diagnosis of Pompe disease
Molecular Genetics and Metabolism
2023/2/1
Sandra Leistner-Segal
H-Index: 17
Roberto Giugliani
H-Index: 52
Utilization of next generation sequencing technology for detection of mosaic variants in the IDS gene
Molecular Genetics and Metabolism
2023/2/1
Sandra Leistner-Segal
H-Index: 17
Roberto Giugliani
H-Index: 52
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study
Neurology: Genetics
2022/10/26
Sandra Leistner-Segal
H-Index: 17
Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil
Hematology, Transfusion and Cell Therapy
2022/10/10
Leo Sekine
H-Index: 9
Sandra Leistner-Segal
H-Index: 17
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy
JIMD reports
2022/3
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network
American Journal of Medical Genetics Part A
2022/3
Methylation of BDNF and SLC6A4 gene promoters in Brazilian patients with temporal lobe epilepsy presenting or not psychiatric comorbidities
Frontiers in Integrative Neuroscience
2021/11/29
José Augusto Bragatti
H-Index: 10
Sandra Leistner-Segal
H-Index: 17
Detection of mosaic variants in mothers of MPS II patients by next generation sequencing
Frontiers in Molecular Biosciences
2021/11/5
Sandra Leistner-Segal
H-Index: 17
Roberto Giugliani
H-Index: 52
INVESTIGAÇÃO DO MICRO-RNA 122 COMO POTENCIAL BIOMARCADOR DE PROGNÓSTICO NA HEMOCROMATOSE HEREDITÁRIA
Hematology, Transfusion and Cell Therapy
2021/10/1
A HIPERFERRITINEMIA E A HEMOCROMATOSE AO OLHAR DE QUEM DIAGNOSTICA E DE QUEM É TRATADO: PODEMOS MELHORAR?
Hematology, Transfusion and Cell Therapy
2021/10/1
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region
American Journal of Medical Genetics Part A
2021/10
Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
2021/9
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
Genetics and Molecular Biology
2021/1/27
Sandra Leistner-Segal
H-Index: 17
Roberto Giugliani
H-Index: 52
A hemocromatose hereditária para além da hiperferritinemia: características clínicas e laboratoriais e resultados da pesquisa de variantes gênicas HFE em 211 pacientes de dois …
Clinical and biomedical research. Porto Alegre
2021
Leo Sekine
H-Index: 9
Sandra Leistner-Segal
H-Index: 17
Análise do miR-122 como possível biomarcador do prognóstico de hemocromatose hereditária
Clinical and biomedical research. Porto Alegre
2021
Leo Sekine
H-Index: 9
Sandra Leistner-Segal
H-Index: 17
Estudo de variantes do gene CYP21A2 relacionadas à hiperplasia adrenal congênita
Clinical and biomedical research. Porto Alegre
2021
Sandra Leistner-Segal
H-Index: 17
Hematology, TransfusionandCellTherapy
2019
Co-Authors
