Franciele B. Trapp
Porto Alegre, RS 90610261, Brazil
Last Updated: 09/26/2026
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Found 26 publications
Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.
Journal: Diseases (Basel, Switzerland)
Published: October 28, 2025
Variant profile of Brazilian patients with Sanfilippo syndrome type B.
Journal: Genetics and molecular biology
Published: August 15, 2025
Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil.
Journal: Genetics and molecular biology
Published: August 06, 2025
Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador.
Journal: Diagnostics (Basel, Switzerland)
Published: August 06, 2025
Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil.
Journal: Journal of inherited metabolic disease
Published: June 17, 2025
Survey of Patients With Sanfilippo Type a (MPS IIIA) Disease Diagnosed by the MPS Brazil Network.
Journal: American journal of medical genetics. Part A
Published: December 25, 2024
Redefining the approach to rare diseases: the experience of "Casa dos Raros" in Brazil.
Journal: Journal of community genetics
Published: September 26, 2024
Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases.
Journal: Journal of community genetics
Published: September 02, 2024
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).
Journal: Journal of community genetics
Published: February 17, 2024
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Journal: Genetics and molecular biology
Published: October 04, 2023
Analysis of genomic ancestry and characterization of a new variant in MPS type VII.
Journal: Orphanet journal of rare diseases
Published: June 28, 2023
Neonatal screening for spinal muscular atrophy: A pilot study in Brazil.
Journal: Genetics and molecular biology
Published: April 28, 2023
Last Updated: 09/26/2026