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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)

• Autophagy in the Central Nervous System and Effects of Chloroquine in Mucopolysaccharidosis Type II Mice. (2019/11/20) ♡
• Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS. (2019/11/18) ♡
• Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey. (2019/11/14) ♡
• Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study. (2019/11/13) ♡
• The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype. (2019/11/12) ♡
• Data in support of the longitudinal characterization of pulmonary function in children with Mucopolysaccharidoses IVA. (2019/11/06) ♡
• Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature. (2019/11/06) ♡
• Characterization of glycan substrates accumulating in GM1 Gangliosidosis. (2019/11/03) ♡
• Molecular profiling of failed endochondral ossification in mucopolysaccharidosis VII. (2019/11/01) ♡
• 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. Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future. (2019/11/01) ♡
• 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. Heparan sulfate proteoglycans: The sweet side of development turns sour in mucopolysaccharidoses. (2019/11/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience. (2019/11/01) ♡
• Intrathecal AAVrh10 corrects biochemical and histological hallmarks of mucopolysaccharidosis VII mice and improves behavior and survival. (2019/11/01) ♡
• 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. Craniosynostosis and metabolic bone disorder. A review. (2019/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation. (2019/10/28) ♡
• Enhancing the Therapeutic Potential of Sulfamidase for the Treatment of Mucopolysaccharidosis IIIA. (2019/10/28) ♡
• The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis. (2019/10/25) ♡
• 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. Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases. (2019/10/21) ♡
• Transition of patients with mucopolysaccharidosis from paediatric to adult care. (2019/10/21) ♡
• Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses. (2019/10/14) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases. (2019/10/11) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Enzyme-Loaded Gel Core Nanostructured Lipid Carriers to Improve Treatment of Lysosomal Storage Diseases: Formulation and In Vitro Cellular Studies of Elosulfase Alfa-Loaded Systems. (2019/10/11) ♡
• An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan. (2019/10/05) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Lymphocytes in Sanfilippo syndrome display characteristic Alder-Reilly anomaly. (2019/10/03) ♡
• 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. Gene-Based Approaches to Inherited Neurometabolic Diseases. (2019/10/01) ♡
• 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. In Vivo Gene Therapy for Mucopolysaccharidosis Type III (Sanfilippo Syndrome): A New Treatment Horizon. (2019/10/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes. (2019/10/01) ♡
• [Cardiovascular findings and effects of enzyme replacement therapy in patients with mucopolysaccharidosis type VI]. (2019/10/01) ♡
• A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis. (2019/10/01) ♡
• 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. Molecular genetic aspects of the development of the mucopolysaccharidoses (review). (2019/10/01) ♡
• A boy with mucopolysaccharidosis type II accompanied with a novel variation in heparan-N-sulfatase. (2019/09/20) ♡
• 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. Mucopolysaccharidosis Type III. (2019/09/19) ♡
• Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems. (2019/09/18) ♡
• 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. Ophthalmological Findings in Mucopolysaccharidoses. (2019/09/14) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical ocular manifestations of Taiwanese patients with mucopolysaccharidoses VI (Maroteaux-Lamy syndrome). (2019/09/12) ♡
• Complex care, high cost, and loss of income: frequent issues for families of children and adolescents with rare health conditions. (2019/09/09) ♡
• Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice. (2019/09/07) ♡
• Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I. (2019/09/06) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I. (2019/09/01) ♡
• An online survey of burden of illness in families with mucopolysaccharidosis type II children in the United States. (2019/08/31) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cochlear implantation in a patient with mucopolysaccharidosis IVA. (2019/08/30) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Development of Substrate Degradation Enzyme Therapy for Mucopolysaccharidosis IVA Murine Model. (2019/08/24) ♡
• Adjunct Diagnostic Value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-Related Cervical Myelopathy: A Pilot Study. (2019/08/14) ♡
• Demographic, laboratory findings and diagnostic evaluation among high risk patients with mucopolysaccharidosis in Malaysia. (2019/08/09) ♡
• Robust LC-MS/MS methods for analysis of heparan sulfate levels in CSF and brain for application in studies of MPS IIIA. (2019/08/01) ♡
• 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. Marketing of drugs for rare diseases is speeding up in China: Looking at the example of drugs for mucopolysaccharidosis. (2019/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A rare late progression form of Sly syndrome mucopolysaccharidosis. (2019/07/29) ♡
• Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan. (2019/07/17) ♡
• FUNCTIONAL INDEPENDENCE OF PEDIATRIC PATIENTS WITH MUCOPOLYSACCHARIDOSES. (2019/07/01) ♡
• In-vivo cortical thickness estimation from high-resolution T(1)w MRI scans in healthy and mucopolysaccharidosis affected dogs. (2019/07/01) ♡

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