Associated Papers
Enhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a zebrafish model of MPSIVA.
Lee JJ et al.
Disease Models & Mechanisms, 2026
Recent advances in mucopolysaccharidosis IVA treatment.
Leal AF et al.
Orphanet Journal of Rare Diseases, 2025
Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.
Lipiński P et al.
Biomolecules, 2025
Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene.
Celik B et al.
Journal of Human Genetics, 2025
Clinical and genetic spectrums of Mucopolysaccharidosis type IV in Duhok city, Kurdistan region, Iraq.
Haleem AA
Cellular and Molecular Biology (noisy-le-grand, France), 2025
Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.
Zhang W et al.
Italian Journal of Pediatrics, 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
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
Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan.
Lin HY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis.
Diaz-Ordoñez L et al.
Jmir Research Protocols, 2024
CRISPR/Cas9 technology in the modeling of and treatment of mucopolysaccharidosis.
Reyhani-Ardabili M et al.
Biochemistry and Biophysics Reports, 2024
Delayed diagnosis of mild mucopolysaccharidosis type IVA.
Yi M et al.
Bmc Medical Genomics, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Sheth J et al.
Jimd Reports, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks.
Leal AF et al.
International Journal of Molecular Sciences, 2023
Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.
Cárdenas JM et al.
Molecular Syndromology, 2023
Enhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts.
Brokowska J et al.
International Journal of Molecular Sciences, 2023
Decreased Levels of Chaperones in Mucopolysaccharidoses and Their Elevation as a Putative Auxiliary Therapeutic Approach.
Żabińska M et al.
Pharmaceutics, 2023
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A et al.
Frontiers in Physiology, 2023
Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing.
Gul R et al.
Frontiers in Genetics, 2023
Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.
Ghafoor S et al.
Genes, 2022
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
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome.
Sheth H et al.
Bmc Genomics, 2022
Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
Yi M et al.
Journal of Inherited Metabolic Disease, 2022
Complex Changes in the Efficiency of the Expression of Many Genes in Monogenic Diseases, Mucopolysaccharidoses, May Arise from Significant Disturbances in the Levels of Factors Involved in the Gene Expression Regulation Processes.
Cyske Z et al.
Genes, 2022
Mucopolysaccharidosis Type IVA: Extracellular Matrix Biomarkers in Cardiovascular Disease.
Montavon B et al.
Frontiers in Cardiovascular Medicine, 2022
Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads.
Ma Y et al.
Frontiers in Pediatrics, 2022
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
Quijada-Fraile P et al.
Orphanet Journal of Rare Diseases, 2021
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
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.
Dos Santos-Lopes SS et al.
American Journal of Medical Genetics. Part A, 2021
Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy.
Bertolin J et al.
Nature Communications, 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
Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes.
Politei J et al.
Jimd Reports, 2021
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review.
Ge Z et al.
Bmc Pediatrics, 2021
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center.
Erazo-Narváez AF et al.
Molecular Genetics and Metabolism Reports, 2020
Bromocriptine as a Novel Pharmacological Chaperone for Mucopolysaccharidosis IV A.
Olarte-Avellaneda S et al.
Acs Medicinal Chemistry Letters, 2020
Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease.
Wang RY et al.
Orphanet Journal of Rare Diseases, 2020
A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.
Puentes-Tellez MA et al.
Heliyon, 2020
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.
Sawamoto K et al.
International Journal of Molecular Sciences, 2020