Disease: Hurler syndrome
- <em>Letter to the Editor:</em> Hematopoietic Stem and Progenitor Cell Mobilization and Collection for Patients Diagnosed with Osteopetrosis and Hurler Syndrome
- 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<sup>®</sup> pediatric D-blade for intubation in a child with Hurler syndrome
- Capsular and retinaculum thickening in type II mucopolysaccharidosis: a novel MRI finding
- Cellular and Gene Expression Response to the Combination of Genistein and Kaempferol in the Treatment of Mucopolysaccharidosis Type I
- Changes in Corneal Clouding Over Time in Patients With Mucopolysaccharidosis
- Changes in expression of signal transduction-related genes, and formation of aggregates of GPER1 and OXTR receptors in mucopolysaccharidosis cells
- 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
- Contribution of the innate and adaptive immune systems to aortic dilation in murine mucopolysaccharidosis type I
- 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 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
- 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
- Efficient in vitro and in vivo RNA editing via recruitment of endogenous ADARs using circular guide RNAs
- Engineered circular ADAR-recruiting RNAs increase the efficiency and fidelity of RNA editing in vitro and in vivo
- 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 of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II
- 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
- Hematopoietic stem cell transplant for Hurler syndrome: does using bone marrow or umbilical cord blood make a difference?
- 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)
- Letter to the Editor: Hematopoietic Stem and Progenitor Cell Mobilization and Collection for Patients Diagnosed with Osteopetrosis and Hurler Syndrome
- 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
- Long-Term Outcomes of Big Bubble Deep Anterior Lamellar Keratoplasty in Mucopolysaccharidoses: A Retrospective Case Series and Review of the Literature
- 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 Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology
- 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
- 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
- Quantifying medical manifestations in Hurler syndrome with the infant physical symptom score: associations with long-term physical and adaptive outcomes
- 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
- 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
- The importance of skeletal x-ray screening for dysostosis multiplex in the early diagnosis of mucopolysaccharidosis
- 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
- 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
- α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial