• 15 Retinopathy in patients with mucopolysaccharidosis
• A Complete Clinical Spectrum of Morquio Syndrome
• A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re-evaluating primer sequences
• A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV)
• Abnormal Fundus Autofluorescence in Eyes with Morquio Syndrome
• Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA
• Adjunct diagnostic value of radiological findings in mucopolysaccharidosis type IVa-related thoracic spinal abnormalities: a pilot study
• Airway management in mucopolysaccharidosis: a retrospective case series review
• An adolescent case of sellar osteochondromyxoma in the setting of spondyloepiphyseal dysplasia
• An investigation of different intracellular parameters for Inborn Errors of Metabolism: Cellular stress, antioxidant response and autophagy
• Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
• Anesthetic Concerns of Children With Skeletal Dysplasia
• Bone Growth Induction in Mucopolysaccharidosis IVA Mouse
• Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study
• Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads
• Causes of death in mucopolysaccharidoses
• Changes in Corneal Clouding Over Time in Patients With Mucopolysaccharidosis
• Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA
• Clinical characteristics of 111 cases with mucopolysaccharidosis A
• Clinical characteristics of 111 cases with mucopolysaccharidosis ⅣA
• Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome
• Comparative dose effectiveness of intravenous and intrathecal AAV9.CB7.hIDS, RGX-121, in mucopolysaccharidosis type II mice
• Comparison between Nanoparticle Encapsulation and Surface Loading for Lysosomal Enzyme Replacement Therapy
• Comparison of growth dynamics in different types of MPS: an attempt to explain the causes
• Comprehensive Preventive and Therapeutic Oral Health Care: A Case Report of Mucopolysaccharidosis Type IV A in a Pediatric Patient
• Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries
• Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia
• Cranio-cervical decompression associated with non-instrumented occipito-C2 fusion in children with mucopolysaccharidoses: Report of twenty-one cases
• Delayed diagnosis of mild mucopolysaccharidosis type IVA
• Delayed Onset Post-Operative Neurologic Deficit in a Patient With Mucopolysaccharidosis type VI: A Case Report
• Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles
• Dens Growth After Surgical Fixation in Children with Morquio-Brailsford Disease
• Dens growth following surgical fixation in children with Morquio-Brailsford disease
• Dental Considerations for the Treatment of Patients with Morquio Syndrome
• Differences in gene expression patterns, revealed by RNA-seq analysis, between various Sanfilippo and Morquio disease subtypes
• Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis
• Efficient CRISPR/Cas9 nickase-mediated genome editing in an in vitro model of mucopolysaccharidosis IVA
• Endodontic management of taurodontism in a patient with Morquio syndrome: Case report of a 16-year-old girl
• Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis
• Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA
• Enhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts
• Evaluation of bone health in patients with mucopolysaccharidosis
• Evaluation of cardiac findings in mucopolysaccharidosis
• Evaluation of neuroretina following i.v. or intra-CSF AAV9 gene replacement in mice with MPS IIIA, a childhood dementia
• Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA
• Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family
• Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa
• Flaxseed extract reduces tissue accumulation and enhances urinary excretion of chondroitin sulphate in the rat: a possible new path in substrate reduction therapy for mucopolysaccharidosis
• Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12
• Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile
• Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review
• Hinge abduction hip dysplasia in (morquio a syndrome) treated by proximal femoral valgization osteotomy: a rare case report
• How did intraoperative neuromonitorization prevent tetraplegia?
• Hyo-Mental Angle and Distance: An Important Adjunct in Airway Assessment of Adult Mucopolysaccharidosis
• IgG-cleavage protein allows therapeutic AAV gene delivery in passively immunized MPS IIIA mice
• Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies
• Inflammatory process and oxidative/nitrative stress: in vivo study in mucopolysaccharidosis type IV A patients under long-term enzyme replacement therapy
• Integrated Management of an Adult Patient with Mucopolysaccharidosis type IVA: A Case Report with a Six-Year Follow-up
• Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA
• Liver-directed gene therapy corrects neurologic disease in a murine model of mucopolysaccharidosis type I-Hurler
• Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II
• Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India
• Mandibular condyle morphology among patients with mucopolysaccharidosis: An observational study of panoramic radiographs
• Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion)
• Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of <em>GALNS</em> with Resultant Morquio Syndrome with Two Successful Pregnancies
• Molecular therapy and nucleic acid adeno-associated virus-based gene therapy delivering combinations of two growth-associated genes to MPS IVA mice
• Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions
• Morquio B disease: a case report
• Morquio-Brailsford Syndrome: Analysis of Bone Mass and Relevant Clinical Considerations
• Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks
• Mucopolysaccharidosis type IV: report of 5 cases of Morquio Syndrome
• Mucopolysaccharidosis Type IVA: Extracellular Matrix Biomarkers in Cardiovascular Disease
• Natural Evolution of Morquio A Syndrome Caused by Two Heterozygous Mutations of the <em>GALNS</em> Gene
• Non-invasive intravenous administration of AAV9 transducing iduronate sulfatase leads to global metabolic correction and prevention of neurologic deficits in a mouse model of Hunter syndrome
• Novel approach for tracheal resection in Morquio a syndrome with end-stage critical airway obstruction: a UK case series
• Objectively measuring anterior segment alterations in the eyes of mucopolysaccharidoses: Its utility in early diagnosis of glaucoma
• Pharmacological Chaperones for β-Galactosidase Related to G_M1 -Gangliosidosis and Morquio B: Recent Advances
• Pharmacological property, mechanism of action and clinical study results of Pabinafusp Alfa (Genetical Recombination) (IZCARGO() I.V. Infusion 10 mg) as the therapeutic for Mucopolysaccharidosis type-II (Hunter syndrome)
• Pharmacological property, mechanism of action and clinical study results of Pabinafusp Alfa (Genetical Recombination) (IZCARGO^® I.V. Infusion 10 mg) as the therapeutic for Mucopolysaccharidosis type-II (Hunter syndrome)
• Posterior Atlantoaxial Fusion With C1-2 Pedicle Screw Fixation for Atlantoaxial Dislocation in Pediatric Patients With Mucopolysaccharidosis IVA (Morquio a Syndrome): A Case Series
• Psychobehavioral factors and family functioning in mucopolysaccharidosis: preliminary studies
• Radiographic Findings of Mucopolysaccharidosis and Comparison with Bone Mineral Density: A Study from Southeastern Turkey
• Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases
• Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey
• Repetitive, non-invasive imaging of neurodegeneration, and prevention of it with gene replacement, in mice with Sanfilippo syndrome
• Safety, pharmacokinetics and CNS distribution of tralesinidase alfa administered via intracerebroventricular infusion to juvenile cynomolgus monkeys
• Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy
• Specific GAG ratios in the diagnosis of mucopolysaccharidoses
• Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
• Spinal cord compression in patients with mucopolysaccharidosis
• Successful Elosulfase Alfa Desensitization Protocol in a Patient With Morquio A Syndrome
• The deleterious variants of N-acetylgalactosamine-6-sulfatase (GalN6S) enzyme trigger Morquio a syndrome by disrupting protein foldings
• The development of a broad-spectrum retaining β-exo-galactosidase activity-based probe
• The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome
• The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers
• The Outcome of Allogeneic Hematopoietic Stem Cell Transplantation From Different Donors in Recipients With Mucopolysaccharidosis
• Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study
• Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study
• Understanding bias when estimating life expectancy from age at death: a simulation approach applied to Morquio syndrome A
• Untargeted LC-HRMS metabolomics reveals candidate biomarkers for mucopolysaccharidoses