Article
Survey of Patients With Sanfilippo Type a (MPS IIIA) Disease Diagnosed by the MPS Brazil Network.
American journal of medical genetics. Part A - 1 Jun 2025
Montenegro Yorran Hardman Araújo, Trapp Franciele Barbosa, Dos Santos-Lopes Simone Silva, da Silva Karyme Beatrice Lourenço, Baldo Guilherme, Giugliani Roberto, de Oliveira Poswar Fabiano
Abstract excerpt
Mucopolysaccharidosis IIIA (MPS IIIA) is an autosomal recessive lysosomal disease caused by the deficiency of N-sulfoglucosamine sulfohydrolase (SGSH), due to biallelic mutations in the SGSH gene. We conducted a retrospective study utilizing data from MPS IIIA patients born from 1983 to 2024 diagnosed by the MPS Brazil Network. Sixty-eight patients with MPS IIIA were included. The age at diagnosis was 7.3 ± 4.7...
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