Associated Papers
Recent advances in mucopolysaccharidosis IVA treatment.
Leal AF et al.
Orphanet Journal of Rare Diseases, 2025
Diminished GALNS activity in induced pluripotent stem cells of mucopolysaccharidosis IVA caused by compound p.S162Y and p.C165F mutation.
Jiang X et al.
Qjm : Monthly Journal of the Association of Physicians, 2025
Epigenetic landscape in lysosomal storage disorders: mechanisms and modulation.
Leal AF et al.
Frontiers in Genetics, 2025
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA.
Vargas-López V et al.
Scientific Reports, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles.
Leal AF et al.
Scientific Reports, 2022
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Zanetti A et al.
Human Mutation, 2021
Bromocriptine as a Novel Pharmacological Chaperone for Mucopolysaccharidosis IV A.
Olarte-Avellaneda S et al.
Acs Medicinal Chemistry Letters, 2020
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.
Sawamoto K et al.
International Journal of Molecular Sciences, 2020
Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses.
Losada Díaz JC et al.
International Journal of Molecular Sciences, 2019
Identification of Ezetimibe and Pranlukast as Pharmacological Chaperones for the Treatment of the Rare Disease Mucopolysaccharidosis Type IVA.
Alméciga-Diaz CJ et al.
Journal of Medicinal Chemistry, 2019
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Bidchol AM et al.
American Journal of Medical Genetics. Part A, 2014
Molecular genetic assay of mucopolysaccharidosis IVA in South China.
He D et al.
Gene, 2013
Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: implication in Morquio A disease.
Khedhiri S et al.
Diagnostic Pathology, 2011
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
Tomatsu S et al.
Human Mutation, 2005
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.
Tomatsu S et al.
Human Mutation, 2004
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.
Tomatsu S et al.
Journal of Medical Genetics, 2004
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.
Tomatsu S et al.
Molecular Genetics and Metabolism, 0