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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)

• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series. (2017/11/01) ♡
• 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. Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review. (2017/11/01) ♡
• Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey. (2017/11/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS). (2017/11/01) ♡
• Prediction of phenotypic severity in mucopolysaccharidosis type IIIA. (2017/11/01) ♡
• 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 Unique Case of Cervical Myelopathy in an Adult Patient with Scheie Syndrome. (2017/11/01) ♡
• Mortality in patients with Sanfilippo syndrome. (2017/10/23) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Mucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia. (2017/10/20) ♡
• Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses. (2017/10/13) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I. (2017/10/05) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy. (2017/10/04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS). (2017/10/03) ♡
• 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. Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration. (2017/10/01) ♡
• Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis. (2017/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Fibrous Arthropathy Associated With Morphea: A New Cause of Diffuse Acquired Joint Contractures. (2017/10/01) ♡
• Symmetric asymptomatic reticular lesions of the skin. (2017/10/01) ♡
• Symmetric asymptomatic reticular lesions of the skin. (2017/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome. (2017/09/27) ♡
• Clinical features of Mexican patients with Mucopolysaccharidosis type I. (2017/09/21) ♡
• Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses. (2017/09/18) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Elosulfase alfa enzyme replacement therapy attenuates disease progression in a non-ambulatory Japanese patient with Morquio A syndrome (case report). (2017/09/14) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up. (2017/09/14) ♡
• 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. Sleep Disorders in Childhood Neurogenetic Disorders. (2017/09/12) ♡
• Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity. (2017/09/08) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Intracerebral gene therapy for mucopolysaccharidosis type IIIB syndrome. (2017/09/01) ♡
• Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. [Cardiologists and mucopolysaccharidoses. Recommendations of GICEM (Cardiology Experts on Metabolic Disease Italian Group) for diagnosis, follow-up and cardiological management]. (2017/09/01) ♡
• 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. The mucopolysaccharidoses: advances in medical care lead to challenges in orthopaedic surgical care. (2017/09/01) ♡
• Oral health of children and adolescents with mucopolysaccharidosis and mother's Sense of Coherence. (2017/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Another Novel Missense Mutation in ARSB Gene in Iran. (2017/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II. (2017/09/01) ♡
• Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis. (2017/08/31) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I. (2017/08/25) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Carpal Tunnel Syndrome in the Setting of Mucopolysaccharidosis II (Hunter Syndrome). (2017/08/24) ♡
• 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. Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future. (2017/08/23) ♡
• Does orthopaedic surgery improve quality of life and function in patients with mucopolysaccharidoses? (2017/08/01) ♡
• Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study. (2017/08/01) ♡
• Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI. (2017/07/24) ♡
• 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. Lysosomal storage diseases. (2017/05/25) ♡
• 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. [Novel therapies in neurometabolic diseases: the importance of early intervention]. (2017/05/17) ♡
• 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. Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry. (2017/05/02) ♡
• Bone mineral density in patients with mucopolysaccharidosis type III. (2017/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Successful endoscopic treatment of a gastrocolocutaneous fistula due to PEG tube. (2017/05/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study. (2017/05/01) ♡
• Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet. (2017/04/01) ♡
• Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment? (2017/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation. (2017/03/01) ♡
• Substrate Deprivation Therapy to Reduce Glycosaminoglycan Synthesis Improves Aspects of Neurological and Skeletal Pathology in MPS I Mice. (2017/02/23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Mucopolysaccharidoses - Clinical Spectrum and Frequency of Different Types. (2017/02/01) ♡
• Screening for mucopolysaccharidoses in the Turkish population: Analytical and clinical performance of an age-range specific, dye-based, urinary glycosaminoglycan assay. (2017/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Atypical Presentation of Acute Angle-Closure Glaucoma in Maroteaux-Lamy Mucopolysaccharidosis with Patent Prophylactic Laser Peripheral Iridotomy: A Case Report. (2017/01/01) ♡

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