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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)

• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles. (2022/09/03) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial. (2022/09/02) ♡
• An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients. (2022/09/01) ♡
• 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. Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study. (2022/09/01) ♡
• Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants. (2022/09/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa. (2022/09/01) ♡
• Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI. (2022/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Mucopolysaccharidosis VI in a European Shorthair cat: Neurological presentation, computed tomography findings and genetic investigation. (2022/08/29) ♡
• Impact of the Timing of Enzyme Replacement Therapy Initiation and Cognitive Impairment Status on Outcomes for Patients with Mucopolysaccharidosis II (MPS II) in the United States: A Retrospective Chart Review. (2022/08/29) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Editorial: Cardiac issues in adults with mucopolysaccharidosis. (2022/08/23) ♡
• The Anesthetic Strategy for Patients with Mucopolysaccharidoses: A Retrospective Cohort Study. (2022/08/21) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report. (2022/08/16) ♡
• Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in. (2022/08/12) ♡
• Convergent molecular mechanisms underlying cognitive impairment in mucopolysaccharidosis type II. (2022/08/01) ♡
• Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey. (2022/08/01) ♡
• Clinical, Endocrine and Genetic spectrums of Mucopolysaccharidoses type VI in Duhok city, Kurdistan Region, Iraq. (2022/07/31) ♡
• Anaesthetic Management in Mucopolysaccharidoses Patients: Clinical Experience in a Tertiary Hospital. (2022/07/30) ♡
• Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis. (2022/07/28) ♡
• Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies. (2022/07/01) ♡
• Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade-long experience. (2022/06/01) ♡
• Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries. (2022/05/10) ♡
• Carpal tunnel syndrome and finger deformities in children with mucopolysaccharidoses and mucolipidoses: a retrospective review of 52 patients. (2022/05/01) ♡
• Evaluation of bone health in patients with mucopolysaccharidosis. (2022/05/01) ♡
• Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency. (2022/04/01) ♡
• Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion). (2022/04/01) ♡
• The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers. (2022/03/24) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Comment on Mucopolysaccharidosis Type I-Associated Corneal Disease: A Clinicopathologic Study. (2022/03/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Reply to Comment on: Mucopolysaccharidosis type I associated corneal disease: A clinicopathologic study. (2022/03/01) ♡
• Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network. (2022/03/01) ♡
• 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. Golgi requires a new casting in the screenplay of mucopolysaccharidosis II cytopathology. (2022/03/01) ♡
• Burden of Morbidity after Allogeneic Blood or Marrow Transplantation for Inborn Errors of Metabolism: A BMT Survivor Study Report. (2022/03/01) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil. (2022/03/01) ♡
• Efficacy of Enzyme Replacement Therapy on the range of motion of the upper and lower extremities in 16 Polish patients with mucopolysaccharidosis type II: A long-term follow-up study. (2022/02/28) ♡
• Differences in gene expression patterns, revealed by RNA-seq analysis, between various Sanfilippo and Morquio disease subtypes. (2022/02/20) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene. (2022/02/03) ♡
• 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. Presentation and aetiology of paediatric trigger finger: a systematic review. (2022/02/01) ♡
• Mucopolysaccharidosis patients have reduced functional capacity. (2022/02/01) ♡
• Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies. (2022/02/01) ♡
• An investigation of different intracellular parameters for Inborn Errors of Metabolism: Cellular stress, antioxidant response and autophagy. (2022/02/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA. (2022/02/01) ♡
• What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel? (2022/02/01) ♡
• Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology. (2022/01/24) ♡
• Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia. (2022/01/18) ♡
• Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy. (2022/01/12) ♡
• Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System. (2022/01/01) ♡
• B-cell depletion abrogates immune mediated cytopenia and rejection of cord blood transplantation in Hurler syndrome. (2022/01/01) ♡
• Effects of lithium administration on vertebral bone disease in mucopolysaccharidosis I dogs. (2022/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Case of Posterior Circulation Embolism Due to a Subtype of Bow Hunter's Syndrome Diagnosed by Non-Invasive Examination. (2022/01/01) ♡
• Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing. (2022/01/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Characterization of a spontaneous cell line from primary mouse fibroblasts as a model to study Sanfilippo syndrome. (2022/01/01) ♡

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