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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)

• Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series. (2021/03/22) ♡
• 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. Nutrition in adult patients with selected lysosomal storage diseases. (2021/03/10) ♡
• Projected Retained Ability Score (PRAS): A New Methodology for Quantifying Absolute Change in Norm-Based Psychological Test Scores Over Time. (2021/03/01) ♡
• Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease. (2021/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing. (2021/03/01) ♡
• Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases. (2021/02/16) ♡
• Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients. (2021/02/07) ♡
• 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. A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II. (2021/02/03) ♡
• 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. Update on Clinical Ex Vivo Hematopoietic Stem Cell Gene Therapy for Inherited Monogenic Diseases. (2021/02/03) ♡
• Ultrastructural analysis of different skeletal cell types in mucopolysaccharidosis dogs at the onset of postnatal growth. (2021/02/01) ♡
• 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. Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives. (2021/02/01) ♡
• [Infantile arterial hypertension: A diagnostic challenge in paediatrics]. (2021/02/01) ♡
• Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing. (2021/02/01) ♡
• The abnormal accumulation of heparan sulfate in patients with mucopolysaccharidosis prevents the elastolytic activity of cathepsin V. (2021/02/01) ♡
• Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human α-N-Acetylglucosamine-6-Sulfatase in Neonatal Mice. (2021/01/04) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cochlear Implantation via the Transmeatal Approach in an Adolescent with Hunter Syndrome-Type II Mucopolysaccharidosis. (2021/01/01) ♡
• 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. Novel therapies for mucopolysaccharidosis type III. (2021/01/01) ♡
• Outcome After Cord Blood Transplantation Using Busulfan Pharmacokinetics-Targeted Myeloablative Conditioning for Hurler Syndrome. (2021/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient. (2021/01/01) ♡
• Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations. (2021/01/01) ♡
• Temporospatial Development of Neuropathologic Findings in a Canine Model of Mucopolysaccharidosis IIIB. (2021/01/01) ♡
• Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature. (2021/01/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Morphological damage in Sertoli, myoid and interstitial cells in a mouse model of mucopolysaccharidosis type I (MPS I). (2021/01/01) ♡
• Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center. (2021/01/01) ♡
• 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. Mucopolysaccharidosis III: Molecular basis and treatment. (2021/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Sleep-related hypermotor epilepsy in a patient with mucopolysaccharidosis type III. (2021/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma. (2021/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Combined Aortic and Mitral Valve Stenosis in Mucopolysaccharidosis Syndrome Type I-S: A Report of a Rare Case. (2021/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients (2021-11-19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT) (2021-11-03) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Evaluate OPTI-BIOME™ Bacillus Subtilis MB40 on Abdominal Discomfort, Gas and Bloating in a Healthy Population (2021-10-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Probiotic Supplementation Among Adults With Recurrent Gastrointestinal Symptoms (2021-09-14) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of AAVrh10-h.SGSH Gene Therapy in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA) (2021-08-31) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural History Study of Patients With MPS IIIA (2021-08-31) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis (2021-08-16) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-term Follow-Up for RGX-121 (2021-08-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) (2021-07-21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase® (2021-06-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA) (2021-06-14) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase® (2021-06-14) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients (2021-06-14) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093. (2021-06-11) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment (2021-06-11) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA) (2021-06-11) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase (2021-06-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) (2021-06-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural History Observational Study of MPS IIIa in SMC (2021-06-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome (2021-06-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients (2021-06-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease (2021-06-08) ♡

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