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Rare and hereditary disorders
Mucopolysaccharidosis
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Publications and studies (1371)
- ExIR enables prioritizing driver and biomarker genes from omics data in a reference free manner. (2026/06/08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An international observational study on transition of care from paediatric to adult services for patients with mucopolysaccharidosis II. (2026/06/06) ♡
- Mucopolysaccharidosis type I with retinal degeneration and absence of corneal involvement in the eighth decade of life. (2026/06/05) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector Delivery. (2026/06/04) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. First-in-human intracisternal dosing of RGX-111 in severe MPS I is well tolerated and generates sustained neurodevelopment without HSCT. (2026/06/03) ♡
- Peripapillary Scleral Deposits in Mucopolysaccharidosis Type II. (2026/06/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges. (2026/06/01) ♡
- Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden. (2026/06/01) ♡
- Mucopolysaccharidosis IIID and Beta-Mannosidosis in Brazilian Anglo-Nubian Goats: Molecular and Genealogical Insights for the Development and Implementation of a Genetic Disease Eradication Program. (2026/06/01) ♡
- Growth Patterns in MPS IVA and MPS IIIA: A Longitudinal Single-Center Study. (2026/05/28) ♡
- Voice Characteristics and Parent-Reported Voice Handicap in Children With Mucopolysaccharidosis: A Pilot Case-Control Study. (2026/05/22) ♡
- Homozygous R383H variant in IDUA gene causing pericentric retinitis pigmentosa in attenuated mucopolysaccharidosis type I. (2026/05/20) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Mapping Sanfilippo Syndrome: A Multisystem Clinicopathological Autopsy. (2026/05/18) ♡
- Infusion rate adjustment in enzyme replacement therapy with pabinafusp alfa for mucopolysaccharidosis II. (2026/05/17) ♡
- Molecular Modeling of N-Acetylglucosamine Binding to the I154R Mutant of NAGLU: Pathogenic Insights into Sanfilippo Syndrome Type B. (2026/05/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Rare Case of Mucopolysaccharidosis Presenting With Dysostosis Multiplex and Preserved Intelligence in a Seven-Year-Old Girl From Northeast India. (2026/05/14) ♡
- Treosulfan-based conditioning for hematopoietic stem cell transplantation in mucopolysaccharidosis: a pilot study. (2026/05/09) ♡
- RNA activation as a precision dosing modality: MTL-CEBPA for controlled enzyme elevation in MPS I-H. (2026/05/07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Assessment of bone health and bone mineral density in patients with mucopolysaccharidosis receiving enzyme replacement therapy. (2026/05/07) ♡
- Dental Health in Pediatric Patients With Different Types of Mucopolysaccharidosis: Retrospective Cross-Sectional Study. (2026/05/04) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Merging evans syndrome with mucopolysaccharidosis type II: a case report. (2026/05/04) ♡
- Cardiac involvement across mucopolysaccharidosis subtypes: insights from a longitudinal single-center study. (2026/05/04) ♡
- Quality of Life and Related Factors in Patients Diagnosed with Mucopolysaccharidosis and Their Caregivers. (2026/05/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Mucopolysaccharidosis III B: A Case Report. (2026/05/01) ♡
- Correction to "Syndrome of the Month: ARSK-Related Mucopolysaccharidosis Type 10". (2026/05/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Long-term structural correlation between retinal depigmentation and scleral thickening in mucopolysaccharidosis type II. (2026/05/01) ♡
- Newborn Screening and Early Cord Blood Transplant for Mucopolysaccharidosis. (2026/05/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Natural History of Morquio A Syndrome. (2026/05/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hunter Syndrome: The Pediatric Surgeon's Point of View. (2026/05/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. RPE Abnormality Is a Potential Primary Cause for Retinal Degeneration in Mucopolysaccharidosis Type VI Patients and a Rat Model. (2026/05/01) ♡
- Short-Term Oral Spermidine Supplementation Modifies Aspects of Neurodegenerative Disease in Flies and Mice With MPS III. (2026/05/01) ♡
- Harmonizing Perspectives on MPS II Care in Türkiye: A Delphi Study Towards Treatment Management Consensus. (2026/04/30) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Mucopolysaccharidosis Type II. (2026/04/28) ♡
- A novel IDS variant associated with an isolated ocular phenotype in Hunter syndrome. (2026/04/25) ♡
- Development of Small-Molecule Allosteric Modulators of Beta-Galactosidase (β-Gal) for the Treatment of GM1 Gangliosidosis and Morquio B. (2026/04/18) ♡
- Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB. (2026/04/13) ♡
- Delayed diagnosis of mucopolysaccharidosis type I in a patient with spinopelvic instability, short stature, and skeletal dysplasia. (2026/04/10) ♡
- Modelling synaptic dysfunction in childhood dementia using human iPSC-derived cortical networks. (2026/04/07) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Adult disease burden in patients with mucopolysaccharidosis type I H (Hurler syndrome): A comprehensive literature review with patient case analysis. (2026/04/06) ♡
- Revealing the role of a novel IDS gene mutation in mucopolysaccharidosis type II: insights from computational analysis. (2026/04/02) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Fucosidosis. (2026/04/02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Analysis of Orofacial Changes in Children and Adolescents With Mucopolysaccharidosis and Osteogenesis Imperfecta. (2026/04/01) ♡
- Atlantoaxial Instability in Mucopolysaccharidoses: Surgical Indications and Recommendations. (2026/04/01) ♡
- Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses. (2026/03/31) ♡
- Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families with SGSH and GALNS Deficiencies. (2026/03/31) ♡
- Management of Progressive Superolateral Left Hip Pain in a 28-year-old Male with Mucopolysaccharidosis II (MPS II). (2026/03/30) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Acute Airway Crisis in Mucopolysaccharidosis VI: Management Challenges. (2026/03/27) ♡
- Long-term Natural History and Elosulfase Alfa Treatment for Mucopolysaccharidosis Type IVA: A Single-Center Study in the Czech Republic. (2026/03/26) ♡
- Microwave-Assisted Synthesis and Enzyme Stabilization Study of N‑Alkyl Praziquantel Analogs for Arylsulfatase B: Possible Leads for Mucopolysaccharidosis VI Therapy. (2026/03/25) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Genetic Mutations Underlying Growth Impairment and Cardiomyopathies in Children: Molecular Mechanisms, Clinical Implications and Targeted Therapies. (2026/03/23) ♡
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