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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)

• Targeting the Root Cause of Mucopolysaccharidosis IIIA with a New scAAV9 Gene Replacement Vector. (2020/10/22) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. 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. (2020/10/21) ♡
• Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase. (2020/10/21) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. MUCOPOLYSACCHARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW. (2020/10/21) ♡
• Cardiac manifestations and effects of enzyme replacement therapy for over 10 years in adults with the attenuated form of mucopolysaccharidosis type I. (2020/10/20) ♡
• Proteasome Composition and Activity Changes in Cultured Fibroblasts Derived From Mucopolysaccharidoses Patients and Their Modulation by Genistein. (2020/10/20) ♡
• Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II. (2020/10/14) ♡
• 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. Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report. (2020/10/08) ♡
• 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. Challenging behavior in mucopolysaccharidoses types I-III and day-to-day coping strategies: a cross sectional explorative study. (2020/10/02) ♡
• 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. Bone-Specific Drug Delivery for Osteoporosis and Rare Skeletal Disorders. (2020/10/01) ♡
• Transcriptomic analyses suggest that mucopolysaccharidosis patients may be less susceptible to COVID-19. (2020/10/01) ♡
• Spine radiograph in dysplasias: A pictorial essay. (2020/10/01) ♡
• Applying the functional independence measure to the assessment of patients with mucopolysaccharidosis. (2020/09/30) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study. (2020/09/29) ♡
• 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. Advanced Techniques for Securing Airway in Mucopolysaccharidoses and the Impact of New Therapeutic Approaches. (2020/09/22) ♡
• Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation. (2020/09/20) ♡
• Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate. (2020/09/18) ♡
• Diagnosis is in the Eye of the Beholder: Barriers to Early Diagnosis of Mucopolysaccharidosis in Children in India. (2020/09/18) ♡
• 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. Mucolipidoses Overview: Past, Present, and Future. (2020/09/17) ♡
• A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI. (2020/09/16) ♡
• Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II). (2020/09/10) ♡
• Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update. (2020/09/03) ♡
• Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI. (2020/09/02) ♡
• Tandem Mass Spectrometry Enzyme Assays for Multiplex Detection of 10-Mucopolysaccharidoses in Dried Blood Spots and Fibroblasts. (2020/09/01) ♡
• Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227]. (2020/09/01) ♡
• Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints. (2020/09/01) ♡
• Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I. (2020/08/26) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Choroidal Deposits in a Patient With Mucopolysaccharidoses Type 1. (2020/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Carpal tunnel syndrome in paediatric patients: A novel association with Kosaki overgrowth syndrome. (2020/07/27) ♡
• A Possible Role for Arylsulfatase G in Dermatan Sulfate Metabolism. (2020/07/12) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing. (2020/07/07) ♡
• IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families. (2020/07/01) ♡
• 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. Cardiac involvement in Lysosomal Storage Diseases. (2020/07/01) ♡
• Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA. (2020/06/30) ♡
• Bromocriptine as a Novel Pharmacological Chaperone for Mucopolysaccharidosis IV A. (2020/06/24) ♡
• Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features. (2020/06/23) ♡
• A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders. (2020/06/01) ♡
• Longitudinal Analysis of Ocular Disease in Children with Mucopolysaccharidosis I after Hematopoietic Cell Transplantation. (2020/05/01) ♡
• A flexible multi-domain test with adaptive weights and its application to clinical trials. (2020/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient. (2020/05/01) ♡
• 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. Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review. (2020/05/01) ♡
• Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences. (2020/04/30) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report. (2020/03/18) ♡
• Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses. (2020/03/13) ♡
• Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses. (2020/03/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Cell cycle progression is disrupted in murine MPS VII growth plate leading to reduced chondrocyte proliferation and transition to hypertrophy. (2020/03/01) ♡
• Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature. (2020/02/20) ♡
• Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. (2020/02/07) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA. (2020/02/01) ♡
• Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I. (2020/02/01) ♡

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