Ana C. Facchin-Brusius
Porto Alegre, RS 90035903, Brazil
Last Updated: 09/26/2026
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Found 44 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
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
Genotype-phenotype correlation of neurodevelopmental disorders in patients with dystrophinopathies.
Journal: Jornal de pediatria
Published: April 19, 2024
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
Gene-environment interactions and preterm birth predictors: A Bayesian network approach.
Journal: Genetics and molecular biology
Published: March 27, 2023
Pilot study of newborn screening for six lysosomal diseases in Brazil.
Journal: Molecular genetics and metabolism
Published: March 07, 2023
Copy number variations in SPAST and ATL1 are rare among Brazilians.
Journal: Clinical genetics
Published: November 09, 2022
Last Updated: 09/26/2026