Associated Papers
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Montenegro YHA et al.
American Journal of Medical Genetics. Part A, 2022
Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.
Gómez-Grau M et al.
Plos One, 2015
Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.
Mangas M et al.
Clinical Genetics, 2008
Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.
Coll MJ et al.
Journal of Inherited Metabolic Disease, 2001
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