Article
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
American journal of medical genetics. Part A - 1 Mar 2022
Montenegro Yorran Hardman Araújo, de Souza Carolina Fischinger Moura, Kubaski Francyne, Trapp Franciele Barbosa, Burin Maira Graeff, Michelin-Tirelli Kristiane, Leistner-Segal Sandra, Facchin Ana Carolina Brusius, Medeiros Fernanda S, Giugliani Luciana, Ribeiro Erlane Marques, Lourenço Charles Marques, Cardoso-Dos-Santos Augusto César, Ribeiro Márcia Gonçalves, Kim Chong Ae, Castro Matheus Augusto Araújo, Embiruçu Emília Katiane, Steiner Carlos Eduardo, Moreira Maria Lucia Castro, Montano Hector Quintero, Baldo Guilherme, Giugliani Roberto
Abstract excerpt
Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N-acetyl-alpha-d-glucosaminidase (NAGLU), caused by biallelic pathogenic variants in the NAGLU gene, which leads to storage of heparan sulfate and a series of clinical consequences which hallmark is neurodegeneration. In this study clinical, epidemiological, and biochemical data were obtained from MPS...
Topics
- Alleles
- Brazil
- Child
- Heparitin Sulfate
- Humans
- Mucopolysaccharidosis III