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
Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.
Matalonga L et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2015
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
Select a paper to view details