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Mucopolysaccharidosis

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest Level of Evidence Only (35)Treatment guideline (2)Meta-analysis (2)Phase 3 study (16)Systematic review (9)Randomized trial (6)Clinical trial (325)Review Article (168)Early-stage study (phase 1 or 2) (13)Case report (189)Laboratory or animal study (49)Commentary or editorial (21) Studies currently recruiting participants only (33)

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Publications and studies (1371)

• 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 mucopolysaccharidosis research: the impact of mass spectrometry-based approaches. (2025/11/24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. 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. (2025/11/21) ♡
• Mucopolysaccharidoses: A biochemical study under limited resources. (2025/11/20) ♡
• Allogeneic hematopoietic stem cell transplantation modulates neurodevelopmental trajectories in mucopolysaccharidosis: a longitudinal study of subtype-specific outcomes and age-dependent efficacy. (2025/11/19) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Bilateral Foveal Cysts in Mucopolysaccharidosis Type I (Hurler Syndrome): Response to Acetazolamide With Insights From Multimodal Retinal Imaging and Electrophysiology. (2025/11/19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study. (2025/11/12) ♡
• 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. Neuroinflammation as a Novel Therapeutic Frontier for Sanfilippo Syndrome. (2025/11/12) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Intraoperative Neuromonitoring Assists in Detecting Positioning-Associated Ischemia in Non-Spine Surgery in Morquio Syndrome: A Case Report. (2025/11/10) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. In vivo CRISPR/Cas9-mediated gene integration corrects mucopolysaccharidosis type II in mice. (2025/11/08) ♡
• Guidance for Home Enzyme Replacement Therapy in Children and Adolescents Diagnosed with Mucopolysaccharidoses: A Scoping Review Protocol. (2025/11/07) ♡
• Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya. (2025/11/04) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Anaesthetic management of a preadolescent child with Mucopolysaccharidosis type II (Hunter's syndrome) for insertion of a ventriculoperitoneal shunt. (2025/11/03) ♡
• Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder. (2025/11/01) ♡
• Domain-substituted IGF2 tag modulates targeting of lentiviral gene therapy for Hunter syndrome. (2025/11/01) ♡
• 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. Mucopolysaccharidosis VI: Therapeutic strategies and perspectives. (2025/11/01) ♡
• 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. Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review. (2025/11/01) ♡
• Quantification of keratan sulfate in biofluids by validated HPCE-LIF: application to Morquio syndrome. (2025/11/01) ♡
• Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study. (2025/10/31) ♡
• Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS). (2025/10/30) ♡
• Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Safety and efficacy of laronidase in Chinese patients with mucopolysaccharidosis type I: a phase IV, single-arm, open-label, multicenter study. (2025/10/29) ♡
• Long-Term Liver-Targeted AAV8 Gene Therapy for Mucopolysaccharidosis IVA. (2025/10/29) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a Recurrent IDUA Allele in Colombia. (2025/10/27) ♡
• Reclassifying IDUA c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele. (2025/10/27) ♡
• 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. Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative. (2025/10/23) ♡
• 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. Recent advances in mucopolysaccharidosis IVA treatment. (2025/10/14) ♡
• 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. Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview. (2025/10/14) ♡
• Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model. (2025/10/10) ♡
• Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III. (2025/10/10) ♡
• Rescue of neurologic disease in mucopolysaccharidosis type II mice via AAV-mediated liver delivery of brain-penetrating iduronate-2-sulfatase. (2025/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan. (2025/10/01) ♡
• Three-dimensional human mucopolysaccharidosis IVA chondrocyte culture reveals significant impairments in the lysosomal-mitochondrial crosstalk. (2025/10/01) ♡
• Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes. (2025/09/27) ♡
• 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 case report on the treatment of autoimmune hemolytic anemia after CBT by daratumumab in a mucopolysaccharidosis type III patient. (2025/09/26) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. 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. (2025/09/25) ♡
• 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 case of mucopolysaccharidosis type ⅢA with ventricular hypertrophy as the first clinical presentation]. (2025/09/24) ♡
• 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 Hunter Syndrome (Mucopolysaccharidosis II) With Bilateral Maculopathy Associated With Rod-Cone Dystrophy. (2025/09/23) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Craniovertebral Junction Compression in Patients With Morquio Syndrome: Case Series and Literature Review. (2025/09/23) ♡
• A pictorial essay of thoracic wall diseases: multiple pathologies in the same anatomical site. (2025/09/20) ♡
• Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador. (2025/09/15) ♡
• Analysis of fatal outcomes of patients with mucopolysaccharidosis type II according to the Russian mucopolysaccharidosis registry. (2025/09/09) ♡
• 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. Radiographic assessment of mucopolysaccharidoses: A pictorial review. (2025/09/09) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Neuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case. (2025/09/06) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA. (2025/09/04) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Development and longitudinal neurocognitive functioning in mucopolysaccharidosis type IIIC: a case study. (2025/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Complementarity of biomarker screening and genetic analyses based on the case of an attenuated multiple sulfatase deficiency. (2025/09/01) ♡
• Progressive activation of the astrocyte A1 phenotype underlies microglia-astroglia crosstalk and contributes to neuroinflammation in neuronopathic MPS. (2025/09/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Defining lung pathogenesis in a murine model of mucopolysaccharidosis Type I by proteomic analysis. (2025/09/01) ♡
• Collagen fibril formation at the plasma membrane occurs independently from collagen secretion. (2025/08/29) ♡
• Reduced heparan sulfate levels in cerebrospinal fluid reflect brain neuron correction in Sanfilippo B mice. (2025/08/28) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Tiny sensors, big hope: ML-optimized nanodiagnostics for TBI in Sanfilippo syndrome. (2025/08/28) ♡

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