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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. Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease. (2018/10/11) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Sangamo's landmark genome editing trial gets mixed reception. (2018/10/11) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Getting the Most: Enhancing Efficacy by Promoting Erythropoiesis and Thrombopoiesis after Gene Therapy in Mice with Hurler Syndrome. (2018/10/10) ♡
• 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. Pain in Mucopolysaccharidoses: Analysis of the Problem and Possible Treatments. (2018/10/08) ♡
• 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 I and Bilateral Optic Disc Edema. (2018/10/05) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I". (2018/10/04) ♡
• 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. Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses. (2018/10/01) ♡
• Generation of two induced pluripotent stem cells lines from Mucopolysaccharydosis IIIA patient: IMEDEAi004-A and IMEDEAi004-B. (2018/10/01) ♡
• Tailoring the AAV2 capsid vector for bone-targeting. (2018/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report. (2018/10/01) ♡
• Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene Therapy. (2018/09/26) ♡
• Substrate accumulation and extracellular matrix remodelling promote persistent upper airway disease in mucopolysaccharidosis patients on enzyme replacement therapy. (2018/09/18) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report. (2018/09/12) ♡
• 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. In Vivo Genome Editing as a Therapeutic Approach. (2018/09/12) ♡
• Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis. (2018/09/04) ♡
• 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 endocrine hormone metabolism level in a Chinese patient with mucopolysaccharidosis IVA: A case report. (2018/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Maroteaux-Lamy syndrome: a rare and challenging case of mitral valve replacement. (2018/09/01) ♡
• 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. Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders. (2018/09/01) ♡
• Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients. (2018/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report. (2018/09/01) ♡
• Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA. (2018/08/29) ♡
• Precision newborn screening for lysosomal disorders. (2018/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Mitral Regurgitation and Heart Failure as the First Presentation in a Patient with Features of Two Connective Tissue Disorders: A Rare Combination of Mucopolysaccharidosis and Osteogenesis Imperfecta? (2018/08/01) ♡
• The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler). (2018/08/01) ♡
• Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment. (2018/08/01) ♡
• Lysosomal N-acetyltransferase interacts with ALIX and is detected in extracellular vesicles. (2018/07/04) ♡
• MPS-IIIA mice acquire autistic behaviours with age. (2018/07/01) ♡
• p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells. (2018/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Severe Aortic and Mitral Stenosis Secondary to Slowly Progressive Hunter Syndrome in an Elderly Patient. (2018/04/25) ♡
• Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study. (2018/04/01) ♡
• Relationship Between Occlusal Features and Enzyme Replacement Therapy in Patients With Mucopolysaccharidoses. (2018/04/01) ♡
• Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy. (2018/03/01) ♡
• 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 Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene. (2018/03/01) ♡
• Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II. (2018/03/01) ♡
• The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. (2018/03/01) ♡
• 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. Bone health in patients with inborn errors of metabolism. (2018/03/01) ♡
• 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. Noninflammatory disorders mimic juvenile idiopathic arthritis. (2018/03/01) ♡
• Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan Horse-Sulfamidase Fusion Protein in the Mucopolysaccharidosis Type IIIA Mouse. (2018/02/05) ♡
• Mucopolysaccharidosis IIIB (Sanfilippo syndrome B) in a commercial emu (Dromaius novaehollandiae) flock. (2018/02/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Aversive and non-aversive memory impairment in the mucopolysaccharidosis II mouse model. (2018/02/01) ♡
• 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. How close are we to therapies for Sanfilippo disease? (2018/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case series. (2018/02/01) ♡
• RTB lectin-mediated delivery of lysosomal α-l-iduronidase mitigates disease manifestations systemically including the central nervous system. (2018/02/01) ♡
• Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). (2018/02/01) ♡
• 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. Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study. (2018/02/01) ♡
• Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse. (2018/02/01) ♡
• Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II. (2018/02/01) ♡
• 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 therapy for Mucopolysaccharidoses. (2018/02/01) ♡
• Voice alterations in patients with Morquio A syndrome. (2018/02/01) ♡
• Evaluation of Intrathecal Routes of Administration for Adeno-Associated Viral Vectors in Large Animals. (2018/01/01) ♡

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