• 15 Retinopathy in patients with mucopolysaccharidosis
• 18-year follow-up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I
• A Novel <em>IDUA</em> Mutation Causing Ocular Disease in 2 Siblings
• A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I
• Actin Cytoskeleton Polymerization and Focal Adhesion as Important Factors in the Pathomechanism and Potential Targets of Mucopolysaccharidosis Treatment
• Analysis of a child with mucopolysaccharidoses type I due to compound heterozygous variants of IDUA gene
• Ataluren suppresses a premature termination codon in an MPS I-H mouse
• Bone Remodeling in an Mps-1h Girl after Hematopoietic Stem Cell Transplantation along with Enzymatic Replacement Therapy
• C-MAC() pediatric D-blade for intubation in a child with Hurler syndrome
• C-MAC^® pediatric D-blade for intubation in a child with Hurler syndrome
• Capsular and retinaculum thickening in type II mucopolysaccharidosis: a novel MRI finding
• Changes in Corneal Clouding Over Time in Patients With Mucopolysaccharidosis
• Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I
• Co-Analysis of Serum and Urine Differentially Expressed Proteins in Mucopolysaccharidosis Type I
• Comparison of growth dynamics in different types of MPS: an attempt to explain the causes
• Complement lectin pathway activation is associated with COVID-19 disease severity, independent of <em>MBL2</em> genotype subgroups
• COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience
• Dilated Optic Nerve Sheath in Mucopolysaccharidosis I: Common and Not Necessarily High Intracranial Pressure
• Discovery of allosteric regulators with clinical potential to stabilize alpha-L-iduronidase in mucopolysaccharidosis type I
• Discovery of Novel Chromenopyridine Derivatives as Readthrough-Inducing Drugs
• Discovery of small-molecule protein stabilizers toward exogenous alpha-l-iduronidase to reduce the accumulated heparan sulfate in mucopolysaccharidosis type I cells
• Drug-induced eRF1 degradation promotes readthrough and reveals a new branch of ribosome quality control
• Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review
• Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome
• Effects of gentamicin inducing readthrough premature stop Codons: A study of alpha-L-iduronidase nonsense variants in COS-7 Cells
• Efficacy of a Combination Therapy with Laronidase and Genistein in Treating Mucopolysaccharidosis Type I in a Mouse Model
• Enzyme replacement with transferrin receptor-targeted alpha-L-iduronidase rescues brain pathology in mucopolysaccharidosis I mice
• Enzyme replacement with transferrin receptor-targeted α-L-iduronidase rescues brain pathology in mucopolysaccharidosis I mice
• Evaluation of tendon and ligament microstructure and mechanical properties in a canine model of mucopolysaccharidosis I
• Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots
• Evidence, detailed characterization and clinical context of complement activation in acute multisystem inflammatory syndrome in children
• Expert consensus for diagnosis and treatment of mucopolysaccharidosis type Ⅰ (2022)
• Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report
• First Three Years' Experience of Mucopolysaccharidosis Type I Newborn Screening in California
• First Three Years' Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
• First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B
• Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry
• Heart valve disease in Hurler-Scheie syndrome
• Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function
• Hepatic adenoma in a 7-year-old girl: a case report and literature review
• Hurler Syndrome
• Hurler Syndrome
• Hurler Syndrome (Mucopolysaccharidosis Type 1): A Case Report
• Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain-Targeted Therapy
• Hurler Syndrome: Orofacial Clinical Findings
• Identification of an alpha-l-iduronidase (IDUA) M1T mutation in a Chinese family with autosomal recessive mucopolysaccharidosis I
• Identification of an α-l-iduronidase (IDUA) M1T mutation in a Chinese family with autosomal recessive mucopolysaccharidosis I
• Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing
• In vivo adenine base editing corrects newborn murine model of Hurler syndrome
• Incidence of bloodstream infections after hematopoietic stem cell transplant for Hurler Syndrome
• Incidence of Bloodstream Infections after Hematopoietic Stem Cell Transplantation for Hurler Syndrome
• Increased pituitary volumes in patients with Sanfilippo syndrome (mucopolysaccharidosis type 3, MPS III)
• Inhibitors of dermatan sulfate epimerase 1 decreased accumulation of glycosaminoglycans in mucopolysaccharidosis type I fibroblasts
• International Society for Cell &amp; Gene Therapy Stem Cell Engineering Committee report on the current state of hematopoietic stem and progenitor cell-based genomic therapies and the challenges faced
• Laronidase-loaded liposomes reach the brain and other hard-to-treat organs after noninvasive nasal administration
• Liver-directed gene therapy corrects neurologic disease in a murine model of mucopolysaccharidosis type I-Hurler
• Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
• Macroglossia in endocrine and metabolic disorders: current evidence, perspectives and challenges
• Mapping brain networks in MPS I mice and their restoration following gene therapy
• Medium-term outcome of transcatheter aortic valve replacement in mucopolysaccharidosis type I-HS (Hurler-Scheie syndrome)
• Modeling skeletal dysplasia in Hurler syndrome using patient-derived bone marrow osteoprogenitor cells
• MPSI Manifestations and Treatment Outcome: Skeletal Focus
• Mucopolysaccharidosis type I Hurler-Scheie syndrome: a case report
• Mucopolysaccharidosis Type I in Mexico: Case-Based Review
• Mucopolysaccharidosis: A broad review
• Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective-Case Report and Literature Review
• Murine Fibroblasts and Primary Hepatocytes as Tools When Studying the Efficacy of Potential Therapies for Mucopolysaccharidosis Type I
• Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I-A Mini-Review
• Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry
• Natural history of craniovertebral abnormalities in a single-center study in 54 patients with Hurler syndrome
• Near-cognate tRNAs increase the efficiency and precision of pseudouridine-mediated readthrough of premature termination codons
• Neurologic Recovery in MPS I and MPS II Mice by AAV9-Mediated Gene Transfer to the CNS After the Development of Cognitive Dysfunction
• New Indications for Hematopoietic Stem Cell Gene Therapy in Lysosomal Storage Disorders
• Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS)
• OCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 1
• Ocular Manifestations of Hurler-Scheie Syndrome: Recurrence of Host Disease in the Corneal Transplant
• Open-label, single-center, clinical study evaluating the safety, tolerability and clinical effects of pentosan polysulfate sodium in subjects with mucopolysaccharidosis I
• Pathogenic Roles of Heparan Sulfate and Its Use as a Biomarker in Mucopolysaccharidoses
• Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10-year prospective study
• Phenotypic characterisation of the Mucopolysaccharidosis Type I (MPSI) Idua-W392X mouse model reveals increased anxiety-related traits in female mice
• Posterior Fossa Horns in Hurler Syndrome: Prevalence and Regression
• Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantation
• Programmable DNA pyrimidine base editing via engineered uracil-DNA glycosylase
• Proteomics identifies novel biomarkers of synovial joint disease in a canine model of mucopolysaccharidosis I
• Quantification of Glycosaminoglycans in Urine by Isotope-Dilution Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry
• Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond
• Successful treatment of corneal hypertrophic scar in Hurler syndrome
• Synthesis and Evaluation of Novel Triaryl Derivatives with Readthrough-Inducing Activity
• Synthesis of Uronic Acid 1-Azasugars as Putative Inhibitors of α-Iduronidase, β-Glucuronidase and Heparanase
• TALEN-mediated intron editing of HSPCs enables transgene expression restricted to the myeloid lineage
• The importance of skeletal x-ray screening for dysostosis multiplex in the early diagnosis of mucopolysaccharidosis
• Therapeutic Nonsense Suppression Modalities: From Small Molecules to Nucleic Acid-Based Approaches
• Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome)
• Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study
• Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants
• Use of Marsupialization as a Definitive Treatment for Large-sized Dentigerous Cysts in a Patient with Mucopolysaccharidosis Type I
• Utilizing AAV-mediated LEAPER 2.0 for programmable RNA editing in non-human primates and nonsense mutation correction in humanized Hurler syndrome mice
• Venous Sinus Stenosis with Prominent Emissary Veins: A New Common Cranial MRI Finding of Mucopolysaccharidosis I
• Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T&gt;A, in a Chinese patient with mucopolysaccharidosis type I
• α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial