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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)

• Mucopolysaccharidosis type II detection by Naïve Bayes Classifier: An example of patient classification for a rare disease using electronic medical records from the Canadian Primary Care Sentinel Surveillance Network. (2018/12/19) ♡
• New Irreversible α-l-Iduronidase Inhibitors and Activity-Based Probes. (2018/12/17) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Bilateral Dentigerous Cyst in Impacted Mandibular Third Molars: A Case Report. (2018/12/05) ♡
• Audiometric evaluation in individuals with mucopolysaccharidosis. (2018/12/03) ♡
• 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. Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene. (2018/12/01) ♡
• 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. Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders. (2018/12/01) ♡
• 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. International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome. (2018/12/01) ♡
• A retrospective comparison of propofol to dexmedetomidine for pediatric magnetic resonance imaging sedation in patients with mucopolysaccharidosis type II. (2018/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Generation of two induced pluripotent stem cells lines from a Mucopolysaccharidosis IIIB (MPSIIIB) patient. (2018/12/01) ♡
• A retrospective study on sleep-disordered breathing in Morquio-A syndrome. (2018/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls. (2018/12/01) ♡
• 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. Hunter Syndrome: Is It Time to Make It Part of Newborn Screening? (2018/12/01) ♡
• 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 novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA. (2018/12/01) ♡
• 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. Lysosomal storage disease overview. (2018/12/01) ♡
• Synthesis and mass spectrometric analysis of disaccharides from methanolysis of heparan sulfate. (2018/11/21) ♡
• Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses. (2018/11/21) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Neuromuscular degeneration and locomotor deficit in a Drosophila model of mucopolysaccharidosis VII is attenuated by treatment with resveratrol. (2018/11/20) ♡
• Diagnosis of Mucopolysaccharidosis Based on History and Clinical Features: Evidence from the Bajio Region of Mexico. (2018/11/20) ♡
• 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. The role of imaging in the skeletal involvement of mucopolysaccharidoses. (2018/11/16) ♡
• 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. Newborn screening in mucopolysaccharidoses. (2018/11/16) ♡
• 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. Anesthesiological risks in mucopolysaccharidoses. (2018/11/16) ♡
• 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. Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know. (2018/11/16) ♡
• 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. Mucopolysaccharidoses: early diagnostic signs in infants and children. (2018/11/16) ♡
• 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. Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists. (2018/11/16) ♡
• 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. Ocular features in mucopolysaccharidosis: diagnosis and treatment. (2018/11/16) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. The new frame for Mucopolysaccharidoses. (2018/11/16) ♡
• 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. ENT and mucopolysaccharidoses. (2018/11/16) ♡
• 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. Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses. (2018/11/16) ♡
• 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. Orthopaedic challenges for mucopolysaccharidoses. (2018/11/16) ♡
• 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: in vivo and ex vivo approaches. (2018/11/16) ♡
• 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. Cerebral and occipito-atlanto-axial involvement in mucopolysaccharidosis patients: clinical, radiological, and neurosurgical features. (2018/11/16) ♡
• 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. Possible strategies to cross the blood-brain barrier. (2018/11/16) ♡
• 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. Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses. (2018/11/16) ♡
• 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: efficacy and limitations. (2018/11/16) ♡
• 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 case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy. (2018/11/16) ♡
• 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. New treatments for the mucopolysaccharidoses: from pathophysiology to therapy. (2018/11/16) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights. (2018/11/12) ♡
• Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons. (2018/11/09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Validation of the shortened Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS). (2018/11/08) ♡
• False positive screen test for mucopolysaccharidoses in healthy female newborns. (2018/11/01) ♡
• Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II. (2018/11/01) ♡
• Hunter syndrome: Long-term idursulfase treatment does not protect patients against DNA oxidation and cytogenetic damage. (2018/11/01) ♡
• 4-epi-Isofagomine derivatives as pharmacological chaperones for the treatment of lysosomal diseases linked to β-galactosidase mutations: Improved synthesis and biological investigations. (2018/11/01) ♡
• The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses. (2018/11/01) ♡
• [The basics of lysosomal storage diseases]. (2018/11/01) ♡
• In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system. (2018/10/28) ♡
• A model of mucopolysaccharidosis type IIIB in pigs. (2018/10/26) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A novel frameshift deletion in NAGLU causing sanfilipo type III-B in an Indian family. (2018/10/26) ♡
• 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. Naturally occurring compounds as pancreatic cancer therapeutics. (2018/10/23) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD). (2018/10/12) ♡

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