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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)

• Hunter Syndrome. (2022/12/01) ♡
• Intracerebroventricular dosing of N-sulfoglucosamine sulfohydrolase in mucopolysaccharidosis IIIA mice reduces markers of brain lysosomal dysfunction. (2022/12/01) ♡
• 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. Gene editing strategies to treat lysosomal disorders: The example of mucopolysaccharidoses. (2022/12/01) ♡
• Objectively measuring anterior segment alterations in the eyes of mucopolysaccharidoses: Its utility in early diagnosis of glaucoma. (2022/12/01) ♡
• Dose-dependent effects of enzyme replacement therapy on skeletal disease progression in mucopolysaccharidosis VII dogs. (2022/11/23) ♡
• Cranio-cervical decompression associated with non-instrumented occipito-C2 fusion in children with mucopolysaccharidoses: Report of twenty-one cases. (2022/11/19) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications. (2022/11/18) ♡
• Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil. (2022/11/17) ♡
• 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. A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease. (2022/11/15) ♡
• Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo. (2022/11/10) ♡
• Bow hunter syndrome. (2022/11/07) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. An Infant Presenting with Interstitial Lung Disease Diagnosed Later as Hunter Syndrome: A Case Report. (2022/11/04) ♡
• Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS). (2022/11/03) ♡
• Abnormal Fundus Autofluorescence in Eyes with Morquio Syndrome. (2022/11/01) ♡
• 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. [Pulmonary phenotypes of inborn errors of metabolism]. (2022/11/01) ♡
• Facial features of lysosomal storage disorders. (2022/11/01) ♡
• Dental Considerations for the Treatment of Patients with Morquio Syndrome. (2022/11/01) ♡
• 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. Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases. (2022/10/29) ♡
• 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. Sanfilippo syndrome: consensus guidelines for clinical care. (2022/10/27) ♡
• Brain transplantation of genetically corrected Sanfilippo type B neural stem cells induces partial cross-correction of the disease. (2022/10/27) ♡
• Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism. (2022/10/25) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Congenital Diaphragmatic Hernia as a Presentation of Mucopolysaccharidosis in a 3-year-old child: A Case Report. (2022/10/24) ♡
• Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study. (2022/10/21) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy. (2022/10/21) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. MPS VII - Extending the classical phenotype. (2022/10/20) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl. (2022/10/20) ♡
• 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. Rare lysosomal disease registries: lessons learned over three decades of real-world evidence. (2022/10/17) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Addition of MPS-II to the Recommended Uniform Screening Panel in the United States. (2022/10/11) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Analysis of a child with mucopolysaccharidoses type I due to compound heterozygous variants of IDUA gene]. (2022/10/10) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome. (2022/10/07) ♡
• 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. Pathogenic Roles of Heparan Sulfate and Its Use as a Biomarker in Mucopolysaccharidoses. (2022/10/03) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay. (2022/10/01) ♡
• Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency. (2022/10/01) ♡
• Binding of heparan sulfate to human cystatin C modulates inhibition of cathepsin L: Putative consequences in mucopolysaccharidosis. (2022/10/01) ♡
• Radiographic Findings of Mucopolysaccharidosis and Comparison with Bone Mineral Density: A Study from Southeastern Turkey. (2022/10/01) ♡
• Tissue doppler echocardiographic evaluation of cardiac functions in children with mucopolysaccharidosis type III disease. (2022/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients. (2022/09/28) ♡
• 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. Biomarkers for Monitoring Renal Damage Due to Fabry Disease in Patients Treated with Migalastat: A Review for Nephrologists. (2022/09/28) ♡
• Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family. (2022/09/27) ♡
• 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. MPSI Manifestations and Treatment Outcome: Skeletal Focus. (2022/09/22) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI. (2022/09/21) ♡
• Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review. (2022/09/21) ♡
• 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 and the blood-brain barrier. (2022/09/19) ♡
• 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. Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach. (2022/09/19) ♡
• Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system. (2022/09/18) ♡
• Phosphofurin Acidic Cluster Sorting Protein 1 Syndrome: Insights Gained on the Multisystem Involvement Reviewing Encoded Protein Interactions? (2022/09/14) ♡
• 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. Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies. (2022/09/12) ♡
• 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. Delivering gene therapy for mucopolysaccharide diseases. (2022/09/12) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Double Valve Replacement in a Patient With Hunter Syndrome. (2022/09/08) ♡
• Comparison of growth dynamics in different types of MPS: an attempt to explain the causes. (2022/09/05) ♡

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