Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network
This study describes the largest Brazilian cohort of MPS IIIC, documenting novel variants and regional heterogeneity. Findings highlight diagnostic delays, ancestry influences, and the urgent need for disease-modifying therapies.
Authors
- Carolina Fischinger Moura de Souza (ORCID: https://orcid.org/0000-0002-7280-6260)
- Michelin-Tirelli Kristiane
- Yorran Hardman Araújo Montenegro (ORCID: https://orcid.org/0000-0002-0684-1818)
- Guilherme Baldo (ORCID: https://orcid.org/0000-0003-1598-5861)
- Fabiano de Oliveira Poswar (ORCID: https://orcid.org/0000-0002-0804-2876)
- Fernanda Medeiros Sebastião (ORCID: https://orcid.org/0000-0001-6710-2333)
- Franciele Barbosa Trapp (ORCID: https://orcid.org/0000-0001-5464-3763)
- Ana Carolina Brusius-Facchin (ORCID: https://orcid.org/0000-0002-1305-7159)
- Paula Frassinetti Vasconcelos de Medeiros (ORCID: https://orcid.org/0000-0003-1863-9358)
- Fernanda Bender-Pasetto
- Erlane Marques Ribeiro
- Simone Silva dos Santos-Lopes
- Maria Fernanda Antero Alves
- Chong Ae Kim
- Emilia Katiane Embiraçu
- Roberto Giugliani
- Mariluce Riegel-Giugliani
Institutions
- Universidade Federal da Bahia (BR)
- Universidade Federal do Rio Grande do Sul (BR)
- Universidade Estadual da Paraíba (BR)
- Universidade de São Paulo (BR)
- Santa Casa Hospital (BR)
- Universidade Federal de Campina Grande (BR)
- Hospital de Clínicas de Porto Alegre (BR)
- National Institute on Population Medical Genetics (BR)
- Hospital Infantil Albert Sabin (BR)
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
- Fundação Faculdade de Medicina (BR)
- Centro de Genomas (Brazil) (BR)
Publication Details
- Journal
- Diseases
- Published
- 2025-12-26
- DOI
- https://doi.org/10.3390/diseases14010005
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00