Sandra Segal-Leistner
Porto Alegre, RS, Brazil
Last Updated: 09/26/2026
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Found 50 publications
Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's profile submitted to phlebotomy in two reference centers in southern Brazil.
Journal: Genetics and molecular biology
Published: July 18, 2022
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study.
Journal: Neurology. Genetics
Published: January 17, 2022
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.
Journal: JIMD reports
Published: October 21, 2021
Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing.
Journal: Frontiers in molecular biosciences
Published: October 04, 2021
Methylation of BDNF and SLC6A4 Gene Promoters in Brazilian Patients With Temporal Lobe Epilepsy Presenting or Not Psychiatric Comorbidities.
Journal: Frontiers in integrative neuroscience
Published: August 25, 2021
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Journal: American journal of medical genetics. Part A
Published: July 19, 2021
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.
Journal: American journal of medical genetics. Part A
Published: December 09, 2020
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: November 09, 2020
Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil.
Journal: Hematology, transfusion and cell therapy
Published: July 24, 2020
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions.
Journal: Genetics and molecular biology
Published: April 30, 2020
Diagnosis of Mucopolysaccharidoses.
Journal: Diagnostics (Basel, Switzerland)
Published: January 31, 2020
Correction to: Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance.
Journal: Cerebellum (London, England)
Published: January 16, 2020
Last Updated: 09/26/2026