Disease progression in Sanfilippo type B: Case series of Brazilian patients

Disease progression in Sanfilippo type B: Case series of Brazilian patients

Abstract Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological and somatic features. Here we studied retrospectiv...

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Main Authors: Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-dos-Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto e Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2024-03-01
Series:Genetics and Molecular Biology
Subjects:
Sanfilippo syndrome
Mucopolysaccharidosis IIIB
MPS Brazil Network
lysosomal storage diseases
heparan sulfate
Brazil
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572024000100102&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572024000100102&tlng=en

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