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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 (1059)

• Respiratory insufficiency after brain metastasectomy for extraskeletal Ewing sarcoma in an adult patient with mucopolysaccharidosis type II: a case report. (2024/07/09) ♡
• 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. Neurosurgical gene therapy for central nervous system diseases. (2024/07/01) ♡
• Evaluation of aortic elasticity properties in mucopolysaccharidosis patients; effect of enzyme replacement therapy (ERT) on aortic stiffness. (2024/06/27) ♡
• Capsular and retinaculum thickening in type II mucopolysaccharidosis: a novel MRI finding. (2024/06/01) ♡
• Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series. (2024/06/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Corrigendum to "Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II" [Molecular Genetics and Metabolism Reports Vol. 37, December 2023, 101021]. (2024/05/28) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome. (2024/05/01) ♡
• 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. Ocular manifestations of liver disease: an important diagnostic aid. (2024/04/15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy. (2024/04/01) ♡
• Training of community health agents - a strategy for earlier recognition of mucopolysaccharidoses. (2024/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Bow Hunter Syndrome: An Illustrative Case and Operative Management. (2024/02/01) ♡
• Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry. (2024/02/01) ♡
• Ability change across multiple domains in mucopolysaccharidosis (Sanfilippo syndrome) type IIIA. (2024/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Evaluation of etanercept (a tumor necrosis factor alpha inhibitor) as an effective treatment for joint disease in mucopolysaccharidosis type I. A case report with whole-body magnetic resonance imaging. (2024/01/19) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Anesthesia management in a child with mucopolysaccharidosis and toxic epidermal necrolysis: A case report. (2024/01/01) ♡
• Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells. (2024/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Bilateral Hunter's bow syndrome: a rare case diagnosed by dynamic digital subtraction angiography. (2024/01/01) ♡
• Evaluation of cardiac findings in mucopolysaccharidosis. (2024/01/01) ♡
• Glycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis. (2024/01/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Repetitive, non-invasive imaging of neurodegeneration, and prevention of it with gene replacement, in mice with Sanfilippo syndrome. (2024/01/01) ♡
• The importance of skeletal x-ray screening for dysostosis multiplex in the early diagnosis of mucopolysaccharidosis. (2024/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical letter new-onset epilepsy presenting as non-convulsive status epilepticus in Mucopolysaccharidosis type II: A case report. (2024/01/01) ♡
• Study of the peripheral and central auditory pathways in patients with mucopolysaccharidosis. (2024/01/01) ♡
• Tandem mass spectrometric assay of N-acetylglucosamine-6-sulfatase for multiplex analysis of mucopolysaccharidosis-IIID in dried blood spots. (2024/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Use of Marsupialization as a Definitive Treatment for Large-sized Dentigerous Cysts in a Patient with Mucopolysaccharidosis Type I. (2024/01/01) ♡
• Lysosomal storage diseases. (2024/01/01) ♡
• Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia. (2023/12/31) ♡
• Molecular docking analysis of a dermatan sulfate tetra-saccharide to human alpha-L-iduronidase. (2023/12/31) ♡
• 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) ♡

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