← All diseases
Rare and hereditary disorders
Mucopolysaccharidosis
Do you want to be notified when there is new research about Mucopolysaccharidosis? This is possible with an account. Create a free account or log in.
Automatically tracked from PubMed and ClinicalTrials.gov, newest on top. Nothing ever disappears here: what you keep in your favorites remains findable. · RSS feed of this disease · only the strongest evidence
Read in plain language what each study is about? With Premium, a single sentence appears above each publication explaining what was studied — and you'll receive a notification as soon as new research about Mucopolysaccharidosis is available. View what Premium costs.
Publications and studies (1371)
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families. (2026/09/01) ♡
- A comparison of tension-band plate growth modulation in mucopolysaccharidoses versus idiopathic angular deformities. (2026/09/01) ♡
- Human iPSC-derived neural progenitor gene therapy improves outcomes in a neuropathic lysosomal disease. (2026/08/10) ♡
- Lysosomal dysfunction drives a transcriptional and epigenetic signature found in disease-associated microglia in neurodegenerative diseases. (2026/08/03) ♡
- 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 bone marrow transplantation for mucopolysaccharidosis type I in Vietnam: a case report. (2026/08/03) ♡
- Long-Term Outcomes of Allogeneic Hematopoietic Stem Cell Transplantation in Pediatric Mucopolysaccharidosis IVA: A 10-Year Follow-Up from a Single-Center Experience in China. (2026/08/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Structural dynamics and stability analysis of a novel ARSK variant confirms its role in MPS type X pathogenesis. (2026/07/28) ♡
- Clinical and Radiological Features Suggestive of Mucopolysaccharidosis in Two Siblings From Sudan: A Case Series. (2026/07/28) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Treatment outcomes maintained in Hunter syndrome patients: a case series on switching from idursulfase to idursulfase beta in Belarus. (2026/07/28) ♡
- 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 type IIIA and IIIC phenotypic progression: A case series. (2026/07/27) ♡
- Early Versus Late Enzyme Replacement Therapy in Siblings With Morquio A Syndrome: Insights Into Therapeutic Timing. (2026/07/26) ♡
- Mucopolysaccharidosis type II in tunisian families: IDS gene variations disrupting substrate binding and a novel deep intronic deletion reducing IDS expression. (2026/07/23) ♡
- High Spinal Cord Injury After a Minor Fall in a 23-Month-Old Girl With Atlantoaxial Instability Associated With Morquio Type A: A Case Report. (2026/07/23) ♡
- Diagnostic Yield of Genetic Disorders in Children with Hip Dysplasia Mimicking Bilateral Legg-Calvé-Perthes Disease. (2026/07/22) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Successful Engraftment After Repeat Cord Blood Transplantation Using an Identical Conditioning Regimen for MPS II. (2026/07/20) ♡
- 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. Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy. (2026/07/19) ♡
- Guidelines for home-based enzyme replacement therapy in children and adolescents with mucopolysaccharidosis: a scoping review. (2026/07/17) ♡
- Unrelated cord blood transplantation for pediatric patients with inborn error of immunity and inborn error of metabolism in Vietnam: early single-center experience. (2026/07/10) ♡
- Sustained clinical benefit of idursulfase beta in mucopolysaccharidosis II: two-year experience from a phase 3 extension study including patients switched from idursulfase. (2026/07/09) ♡
- Personalized Drug Repurposing Screen Identifies Patient-Specific Therapeutic Candidates for Mucopolysaccharidosis Type IIIB. (2026/07/08) ♡
- 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. Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View. (2026/07/08) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Rare and rarer: percutaneous transcatheter mitral commissurotomy using over-the-wire technique in a patient with mucopolysaccharidosis-a case report. (2026/07/06) ♡
- Patient-driven surveys of mucopolysaccharidoses revealed patient-reported outcomes in the Japan MPS patient and family group. (2026/07/03) ♡
- 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 or Skeletal Dysplasia? Clinical and Radiologic Clues for Differential Diagnosis Based on Difficult Cases. (2026/07/01) ♡
- RNF13 is a previously undescribed interactor of iduronate 2-sulfatase that modifies its glycosylation and maturation. (2026/07/01) ♡
- Trigger Digits in Mucopolysaccharidosis Type I: Clinical Characteristics, Surgical Outcomes, and Histopathological Findings. (2026/07/01) ♡
- A North Carolina newborn screening pilot for mucopolysaccharidosis II: Evaluating endogenous nonreducing end glycosaminoglycan analysis and IDS sequencing as higher-tier testing options. (2026/07/01) ♡
- Nationwide newborn screening for mucopolysaccharidoses in Taiwan: Impact, early diagnosis, and clinical advances over the past decade. (2026/07/01) ♡
- Natural history of hearing loss in adults with mucopolysaccharidoses across phenotype and genotype. (2026/07/01) ♡
- Comprehensive analysis of hearing function in Morquio A syndrome: Implications for diagnosis and management. (2026/07/01) ♡
- Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel. (2026/07/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I. (2026/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Morquio Syndrome for Aortic Valve Replacement: Anesthesia Concerns - A Case Report. (2026/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. High-Power Surgical Laser for Treatment of Oral Manifestations of Mucopolysaccharidosis VI: A Case Report. (2026/07/01) ♡
- 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. Advances in Therapies for Mucopolysaccharidoses. (2026/06/29) ♡
- Long-term follow-up and response to elosulfase alfa in mucopolysaccharidosis type IVA: a single-center cohort from the Czech Republic. (2026/06/26) ♡
- Variant profile of Brazilian patients with Sanfilippo syndrome type B. (2026/06/26) ♡
- Combined Intracerebroventricular Enzyme Replacement and Cord Blood Transplantation in Patients with Mucopolysaccharidosis Type II Diagnosed Through Newborn Screening. (2026/06/26) ♡
- Two-year follow-up of musculoskeletal outcomes and quality of life in patients with mucopolysaccharidosis type IV and VI. (2026/06/24) ♡
- 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. Advances in Therapeutic Options for Pulmonary and Sleep Disorders in Mucopolysaccharidosis (MPS) Patients: A Narrative Review. (2026/06/22) ♡
- Mitochondrial morphology and mtDNA content in fibroblasts from patients with different types of mucopolysaccharidosis. (2026/06/22) ♡
- Oral nanoparticle-encapsulated enzyme replacement therapy for mucopolysaccharidosis type I (MPS-I): a proof of concept study. (2026/06/20) ♡
- Mucopolysaccharidosis Type VI Related Retinopathy. (2026/06/18) ♡
- Tividenofusp Alfa: First Approval. (2026/06/18) ♡
- Anesthetic Management of Cesarean Section in a Patient With Mucopolysaccharidosis VI (MPS VI): A Case Report. (2026/06/18) ♡
- The silent threat in mucopolysaccharidosis: assessment of sleep quality and disorders. (2026/06/15) ♡
- Amoxicillin-Induced Drug-Induced Liver Injury Superimposed on Acute Hepatitis C Infection in a Patient With Hurler Syndrome: A Diagnostic Challenge Assessed by the Updated RUCAM. (2026/06/15) ♡
- Impact of Mucopolysaccharidosis Type II in Young Children from the Caregiver's Perspective: A Qualitative Study. (2026/06/12) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Infantile GM1 Gangliosidosis with Epilepsy Associated with a Same-Codon GLB1 Variant (c.808T>G/c.808T>C). (2026/06/12) ♡
- Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes. (2026/06/09) ♡
codex.care does not provide medical advice. Always discuss symptoms, medication, and treatment choices with your own healthcare provider.