T1-T12 and T1-S1 Lengths at Maturity in Patients With Skeletal Dysplasia.

[Safety, tolerability, and pharmacokinetics of verenafusp alfa in healthy volunteers: results of an open-label multicohort phase I study].

RNF13 is a previously undescribed interactor of iduronate 2-sulfatase that modifies its glycosylation and maturation.

Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I.

Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation.

Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry.

Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey.

Collagen fibril formation at the plasma membrane occurs independently from collagen secretion.

Mucopolysaccharidosis III B: A Case Report.

Tiny sensors, big hope: ML-optimized nanodiagnostics for TBI in Sanfilippo syndrome.

Safety and efficacy of laronidase in Chinese patients with mucopolysaccharidosis type I: a phase IV, single-arm, open-label, multicenter study.

Case report of neuronopathic mucopolysaccharidosis type II: Early intracerebroventricular enzyme replacement therapy and hematopoietic cell transplantation with developmental outcomes up to 5 years of age.

Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan.

Safety assessment of laronidase: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS).

Analysis of fatal outcomes of patients with mucopolysaccharidosis type II according to the Russian mucopolysaccharidosis registry.

Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients.

Efficacy and safety of a biosimilar laronidase versus the reference laronidase in patients with mucopolysaccharidosis type I.

Ultrasonographic hip morphology in mucopolysaccharidosis type I Hurler after hematopoietic stem cell gene therapy.

Whole-Exome sequencing and systems biology approaches revealed pathogenicity of compound heterozygote variants of NAGLU gene manifesting developmental regression, brain atrophy, intellectual disability, and ADHD.

ARSK-Related Mucopolysaccharidosis Type 10.

In vivo direct lentiviral gene therapy improves disease pathology in a mucopolysaccharidosis IVA murine model.

Real-world treatment with elosulfase alfa in patients with MPS IVA is associated with improved endurance over time.

A novel image-based classification system for atlantoaxial deformity caused by mucopolysaccharidosis type IVA: an efficacy evaluation.

A case of recurrent spinal cord compression at craniocervical junction due to type IV mucopolysaccharidosis.

Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.

Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey.

Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.

[Screening of high risk children for lysosomal storage diseases and analysis of disease spectrum].

Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction.

Clinical and genetic spectrums of Mucopolysaccharidosis type IV in Duhok city, Kurdistan region, Iraq.

Single-cell RNA sequencing reveals important role of monocytes and macrophages during mucopolysaccharidosis treatment.

Corrigendum to "Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II" [Molecular Genetics and Metabolism Reports Vol. 37, December 2023, 101021].

Pediatric Patients Undergoing Total Hip Arthroplasty: A Single-Center Experience at Average 5.3-Year Follow-Up.

Evaluating Patients With Mucopolysaccharidosis Type III: A Scoping Review on Diagnostic and Follow-Up Approaches.

mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis.

Hematopoietic stem cell transplantation in inborn errors of metabolism-a retrospective analysis on behalf of the pediatric disease working party from the Brazilian Society of Bone Marrow Transplantation and Cellular Therapy.

Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.

Intrathecal or intravenous AAV9-IDUA/RGX-111 at minimal effective dose prevents cardiac, skeletal and neurologic manifestations of murine MPS I.

Health care costs of home care enzyme replacement therapy for patients with lysosomal storage diseases in Germany.

Tracheostomy in children with mucopolysaccharidosis: A systematic review.

Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy.

Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis.

Study on the disease burden of patients with mucopolysaccharidosis type II in China.

Risk and clinical characteristics of spinal cord compression across different mucopolysaccharidosis types: A retrospective cohort study.

Intracranial tumor in a patient with mucopolysaccharidosis type 1 (Scheie syndrome): An extremely rare combination.

Macroglossia in endocrine and metabolic disorders: current evidence, perspectives and challenges.

Long-term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II.

Photobiomodulation in the infrared spectrum reverses the expansion of circulating natural killer cells and brain microglial activation in Sanfilippo mice.

Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC.

Inhibitors of dermatan sulfate epimerase 1 decreased accumulation of glycosaminoglycans in mucopolysaccharidosis type I fibroblasts.

Newborn Screening for 6 Lysosomal Storage Disorders in China.

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.

Further characterization of ARSK-related mucopolysaccharidosis type 10.

TALEN-mediated intron editing of HSPCs enables transgene expression restricted to the myeloid lineage.

Advancing clinical development for neuronopathic Hunter syndrome through a quantitatively-driven reverse translation framework.

Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients.

Efficacy of a Combination Therapy with Laronidase and Genistein in Treating Mucopolysaccharidosis Type I in a Mouse Model.

Comparative dose effectiveness of intravenous and intrathecal AAV9.CB7.hIDS, RGX-121, in mucopolysaccharidosis type II mice.

Evaluation of etanercept (a tumor necrosis factor alpha inhibitor) as an effective treatment for joint disease in mucopolysaccharidosis type I. A case report with whole-body magnetic resonance imaging.

Experiences of Parents of Children with Mucopolysaccharidosis in Türkiye: A Qualitative Study.

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.

Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI-LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT).

Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report.

Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey.

Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II.

Flexible Bronchoscopy Combined With Videolaryngoscope For Tracheal Intubation In A Child With Hunter Syndrome: A Case Report.

Intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II: Final report of 5-year results from a Japanese open-label phase 1/2 study.

Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.

Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study.

The clinical and genotypic-phenotypic findings of mucopolysaccharidosis VI patients: an Iraqi single-study descriptive study.

Characterization of heart disease in mucopolysaccharidosis type II mice.

Synthesis and Evaluation of Novel Triaryl Derivatives with Readthrough-Inducing Activity.

Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function.

First Three Years' Experience of Mucopolysaccharidosis Type-I Newborn Screening in California.

Phenotypic characterisation of the Mucopolysaccharidosis Type I (MPSI) Idua-W392X mouse model reveals increased anxiety-related traits in female mice.

Hinge abduction hip dysplasia in (morquio a syndrome) treated by proximal femoral valgization osteotomy: a rare case report.

New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.

[Clinical characteristics of 111 cases with mucopolysaccharidosis ⅣA].

Mucopolysaccharidosis Type I in Mexico: Case-Based Review.

A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation.

Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA.

Characterization of a HIR-Fab-IDS, Novel Iduronate 2-Sulfatase Fusion Protein for the Treatment of Neuropathic Mucopolysaccharidosis Type II (Hunter Syndrome).

Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.

Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA.

Safety, pharmacokinetics and CNS distribution of tralesinidase alfa administered via intracerebroventricular infusion to juvenile cynomolgus monkeys.

Inflammatory process and oxidative/nitrative stress: in vivo study in mucopolysaccharidosis type IV A patients under long-term enzyme replacement therapy.

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.

Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I.

Modeling cartilage pathology in mucopolysaccharidosis VI using iPSCs reveals early dysregulation of chondrogenic and metabolic gene expression.

Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil.

A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.

Tissue doppler echocardiographic evaluation of cardiac functions in children with mucopolysaccharidosis type III disease.

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.

Phenotypic Correction of Murine Mucopolysaccharidosis Type II by Engraftment of Ex Vivo Lentiviral Vector-Transduced Hematopoietic Stem and Progenitor Cells.

Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI.

[Analysis of a child with mucopolysaccharidoses type I due to compound heterozygous variants of IDUA gene].

Anaesthetic Management in Mucopolysaccharidoses Patients: Clinical Experience in a Tertiary Hospital.

Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report.

Mucopolysaccharidosis VI in a European Shorthair cat: Neurological presentation, computed tomography findings and genetic investigation.

Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in.

Evaluation of oxidative stress and mitochondrial function in a type II mucopolysaccharidosis cellular model: in vitro effects of genistein and coenzyme Q10.

Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.

Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II.

Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry.

Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads.

The Outcome of Allogeneic Hematopoietic Stem Cell Transplantation From Different Donors in Recipients With Mucopolysaccharidosis.

Safety and pharmacokinetics of a highly bioavailable resveratrol preparation (JOTROL TM).

Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.

Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey.

Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review.

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis.

Effect of Anti-Iduronate 2-Sulfatase Antibodies in Patients with Mucopolysaccharidosis Type II Treated with Enzyme Replacement Therapy.

Long-Term Outcomes of Big Bubble Deep Anterior Lamellar Keratoplasty in Mucopolysaccharidoses: A Retrospective Case Series and Review of the Literature.

Case Report: Mucopolysaccharidosis Type I Treatment With α-L-Iduronidase Replacement Therapy.

Iduronate-2-sulfatase interactome: validation by yeast two-hybrid assay.

Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair.

Physiology and Pathophysiology of Heparan Sulfate in Animal Models: Its Biosynthesis and Degradation.

Cellular and Gene Expression Response to the Combination of Genistein and Kaempferol in the Treatment of Mucopolysaccharidosis Type I.

Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia.

Prenatal diagnosis of mucopolysaccharidoses type II by two-dimensional electrophoresis and mass spectrometry in amniotic fluid.

An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.

[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)].

Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.

Airway management in mucopolysaccharidosis: a retrospective case series review.

Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.

Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.

Seven-year follow-up of durability and safety of AAV CNS gene therapy for a lysosomal storage disorder in a large animal.

Mucopolysaccharidosis patients have reduced functional capacity.

Increased Choroidal Thickness in Morquio Syndrome.

Chitotriosidase as a biomarker for gangliosidoses.

Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature.

Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.

Elosulfase alfa in the treatment of mucopolysaccharidosis type IVA: insights from the first managed access agreement.

Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.

Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.

Functional results after carpal tunnel release in mucopolysaccharidosis.

Production of therapeutic iduronate-2-sulfatase enzyme with a novel single-stranded RNA virus vector.

Mucopolysaccharidosis Type I Disease Prevalence Among Patients With Idiopathic Short Stature in Saudi Arabia: Protocol for a Multicenter Cross-sectional Study.

Long-term evolution of mucopolysaccharidosis type I in twins treated with enzyme replacement therapy plus hematopoietic stem cells transplantation.

Long-term effect of hematopoietic cell transplantation on systemic inflammation in patients with mucopolysaccharidoses.

Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score.

Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients.

Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies.

Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis.

Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.

Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting.

Inhibition of iduronic acid biosynthesis by ebselen reduces glycosaminoglycan accumulation in mucopolysaccharidosis type I fibroblasts.

Novel vectors and approaches for gene therapy in liver diseases.

MPSBase: Comprehensive repository of differentially expressed genes for mucopolysaccharidoses.

Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB.

Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II.

Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations.

Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.

Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).

Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II.

Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing.

Applying the functional independence measure to the assessment of patients with mucopolysaccharidosis.

Systemic scAAV9.U1a.hSGSH Delivery Corrects Brain Biochemistry in Mucopolysaccharidosis Type IIIA at Early and Later Stages of Disease.

A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase.

Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human α-N-Acetylglucosamine-6-Sulfatase in Neonatal Mice.

Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease.

Central nervous system pathology in preclinical MPS IIIB dogs reveals progressive changes in clinically relevant brain regions.

Modeling Mucopolysaccharidosis Type II in the Fruit Fly by Using the RNA Interference Approach.

Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update.

Cardiac manifestations and effects of enzyme replacement therapy for over 10 years in adults with the attenuated form of mucopolysaccharidosis type I.

Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans.

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.

Mucolipidoses Overview: Past, Present, and Future.

A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I.

Lower Exposure to Busulfan Allows for Stable Engraftment of Donor Hematopoietic Stem Cells in Children with Mucopolysaccharidosis Type I: A Case Report of Four Patients.

Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course.

Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions.

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing.

miR-143 Regulates Lysosomal Enzyme Transport across the Blood-Brain Barrier and Transforms CNS Treatment for Mucopolysaccharidosis Type I.

Hearing loss in patients with mucopolysaccharidoses-1 and -6 after hematopoietic cell transplantation: A longitudinal analysis.

Liver-Targeted AAV8 Gene Therapy Ameliorates Skeletal and Cardiovascular Pathology in a Mucopolysaccharidosis IVA Murine Model.

Ocular Tolerability and Immune Response to Corneal Intrastromal AAV-IDUA Gene Therapy in New Zealand White Rabbits.

Growth Plate Pathology in the Mucopolysaccharidosis Type VI Rat Model-An Experimental and Computational Approach.

Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening.

Intravenous delivery for treatment of mucopolysaccharidosis type I: A comparison of AAV serotypes 9 and rh10.

The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I.

Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog.

Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry.

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.

Mucopolysaccharidosis Type I.

Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.

Proteomic Analysis of Mucopolysaccharidosis IIIB Mouse Brain.

An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs.

Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis.

MRI findings of the cervical spine in patients with mucopolysaccharidosis type VI: relationship with neurological physical examination.

A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients.

Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI.

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity.

Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation.

Translational studies of intravenous and intracerebroventricular routes of administration for CNS cellular biodistribution for BMN 250, an enzyme replacement therapy for the treatment of Sanfilippo type B.

AAVrh10 Vector Corrects Disease Pathology in MPS IIIA Mice and Achieves Widespread Distribution of SGSH in Large Animal Brains.

Implementation and results of a risk-sharing scheme for enzyme replacement therapy in lysosomal storage diseases.

Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.

Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: A retrospective cohort study.