Associated Papers
Recent advances in mucopolysaccharidosis IVA treatment.
Leal AF et al.
Orphanet Journal of Rare Diseases, 2025
Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome).
Sung J et al.
Molecular Genetics and Metabolism Reports, 2025
Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA.
Arnaboldi SMC et al.
Frontiers in Pediatrics, 2025
Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks.
Leal AF et al.
International Journal of Molecular Sciences, 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
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.
Pachajoa H et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2021
Bromocriptine as a Novel Pharmacological Chaperone for Mucopolysaccharidosis IV A.
Olarte-Avellaneda S et al.
Acs Medicinal Chemistry Letters, 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
Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA.
Tapiero-Rodriguez SM et al.
The Application of Clinical Genetics, 2018
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Caciotti A et al.
Human Mutation, 2015
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.
Morrone A et al.
Human Mutation, 2014
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.
Chistiakov DA et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA.
Lee NH et al.
Korean Journal of Pediatrics, 2012
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: correlation between genotype, phenotype and keratan sulfate levels.
Dũng VC et al.
Molecular Genetics and Metabolism, 0