Maira G. Burin
Porto Alegre, RS, Brazil
Last Updated: 09/26/2026
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Found 44 publications
Analysis of genomic ancestry and characterization of a new variant in MPS type VII.
Journal: Orphanet journal of rare diseases
Published: June 28, 2023
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.
Journal: International journal of neonatal screening
Published: May 02, 2022
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.
Journal: Orphanet journal of rare diseases
Published: February 24, 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
COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil.
Journal: Genetics and molecular biology
Published: August 19, 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
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
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
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.
Journal: Molecular genetics and metabolism
Published: August 01, 2019
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.
Journal: Jornal de pediatria
Published: February 18, 2019
Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays.
Journal: Genetics and molecular biology
Published: November 15, 2018
Last Updated: 09/26/2026