Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.
Bauwens M et al.
Clinical Genetics, 2025
[Natural history of mucopolysaccharidosis type III in a series of Colombian patients].
Cabarcas L et al.
Revista De Neurologia, 2024
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.
Liang Y et al.
Metabolic Brain Disease, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.
Kim MS et al.
Journal of Personalized Medicine, 2022
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Zhu J et al.
Genes, 2022
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Inherited disorders of lysosomal membrane transporters.
Huizing M et al.
Biochimica Et Biophysica Acta. Biomembranes, 2020
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
Martins C et al.
Human Mutation, 2019
Lysosomal N-acetyltransferase interacts with ALIX and is detected in extracellular vesicles.
Fedele AO et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2018
Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC.
Marcó S et al.
Disease Models & Mechanisms, 2016
Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants.
Kim K et al.
Genomics & Informatics, 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
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.
Matos L et al.
Orphanet Journal of Rare Diseases, 2014
The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.
Huh HJ et al.
Annals of Laboratory Medicine, 2013
SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation.
Yoon YA et al.
Annals of Clinical and Laboratory Science, 2012
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
Feldhammer M et al.
Plos One, 2009
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
Feldhammer M et al.
Human Mutation, 2009
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
Ruijter GJ et al.
Molecular Genetics and Metabolism, 2008
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.
Fedele AO et al.
Human Mutation, 2007