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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)

• Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI-LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT). (2023/12/28) ♡
• Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy. (2023/12/25) ♡
• Post-tonsillectomy outcomes in children with mucopolysaccharidosis and obstructive sleep apnea. (2023/12/24) ♡
• Filipin complex-reactive brain lesions: a cautionary tale. (2023/12/19) ♡
• Corrigendum to "iPS-derived neural stem cells for disease modeling and evaluation of therapeutics for mucopolysaccharidosis type II" [Exp. Cell Res. 412, Issue 1, 1 March 2022, 113007]. (2023/12/15) ♡
• 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: The Importance of Early Diagnosis for Adequate Treatment. (2023/12/15) ♡
• 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. Hand Radiographs in Skeletal Dysplasia: A Pictorial Review. (2023/12/15) ♡
• Combining angiotensin receptor blockade and enzyme replacement therapy for vascular disease in mucopolysaccharidosis type I. (2023/12/14) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report. (2023/12/13) ♡
• Severe central nervous system demyelination in Sanfilippo disease. (2023/12/13) ♡
• Integrated Management of an Adult Patient with Mucopolysaccharidosis type IVA: A Case Report with a Six-Year Follow-up. (2023/12/13) ♡
• [Long-term outcome of hematopoietic stem cell transplantation in two children with Mucopolysaccharidosis]. (2023/12/10) ♡
• 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 de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis. (2023/12/06) ♡
• First Three Years' Experience of Mucopolysaccharidosis Type-I Newborn Screening in California. (2023/12/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. HYAL1 deficiency attenuates lipopolysaccharide-triggered renal injury and endothelial glycocalyx breakdown in septic AKI in mice. (2023/12/01) ♡
• Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain-Targeted Therapy. (2023/12/01) ♡
• Airway distortion in mucopolysaccharidosis. (2023/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Randall-Type Monoclonal Immunoglobulin Deposition Disease in Bone Scintigraphy. (2023/12/01) ♡
• Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II: Final report of 5-year results from a Japanese open-label phase 1/2 study. (2023/12/01) ♡
• 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 induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI. (2023/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. "Tardus-parvus waveform" the only initial clue to mid-aortic syndrome- a rare cause of youth onset hypertension: A case report and a comprehensive review. (2023/12/01) ♡
• 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. Comprehensive Preventive and Therapeutic Oral Health Care: A Case Report of Mucopolysaccharidosis Type IV A in a Pediatric Patient. (2023/12/01) ♡
• 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. Mucopolysaccharidosis. (2023/11/28) ♡
• Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey. (2023/11/27) ♡
• 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 Hurler-Scheie syndrome: a case report. (2023/11/27) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study. (2023/11/16) ♡
• Low-molecular weight sulfated marine polysaccharides: Promising molecules to prevent neurodegeneration in mucopolysaccharidosis IIIA? (2023/11/15) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II. (2023/11/11) ♡
• Biochemical diagnosis of Sanfilippo disorder types A and B. (2023/11/10) ♡
• 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. Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks. (2023/11/09) ♡
• Skeletal phenotype amelioration in mucopolysaccharidosis VI requires intervention at the earliest stages of postnatal development. (2023/11/08) ♡
• RETRACTED: Wiesinger et al. An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. Pharmaceutics 2023, 15, 1565. (2023/11/07) ♡
• Iron oxide-coupled CRISPR-nCas9-based genome editing assessment in mucopolysaccharidosis IVA mice. (2023/11/07) ♡
• Transferrin Receptor-Targeted Iduronate-2-sulfatase Penetrates the Blood-Retinal Barrier and Improves Retinopathy in Mucopolysaccharidosis II Mice. (2023/11/06) ♡
• Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia. (2023/11/03) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT. (2023/11/02) ♡
• Help Comes from Unexpected Places: How a Tiny Fairy and a Tropical Fish may help us Model Mucopolysaccharidoses. (2023/11/02) ♡
• Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II. (2023/11/02) ♡
• The impact of Chinese COVID-19 pandemic on the incidence of peripheral facial nerve paralysis after optimizing policies. (2023/11/02) ♡
• Corrigendum to "Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II". (2023/11/01) ♡
• Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study. (2023/11/01) ♡
• Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function. (2023/11/01) ♡
• Incidence of Bloodstream Infections after Hematopoietic Stem Cell Transplantation for Hurler Syndrome. (2023/11/01) ♡
• 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. Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results. (2023/11/01) ♡
• Characterization of heart disease in mucopolysaccharidosis type II mice. (2023/11/01) ♡
• 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. Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans. (2023/11/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study. (2023/11/01) ♡
• Incidence of the Mucopolysaccharidoses in Tunisia, 1999 - 2021. (2023/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period. (2023/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Flexible Bronchoscopy Combined With Videolaryngoscope For Tracheal Intubation In A Child With Hunter Syndrome: A Case Report. (2023/11/01) ♡

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