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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)

• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. An immune deficient mouse model for mucopolysaccharidosis IIIA (Sanfilippo syndrome). (2023/10/27) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond. (2023/10/27) ♡
• Utilizing AAV-mediated LEAPER 2.0 for programmable RNA editing in non-human primates and nonsense mutation correction in humanized Hurler syndrome mice. (2023/10/23) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Sustained long-term disease correction in a murine model of MPSII following stem cell gene therapy. (2023/10/20) ♡
• Generalized pairwise comparisons of prioritized outcomes are a powerful and patient-centric analysis of multi-domain scores. (2023/10/12) ♡
• Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models. (2023/10/11) ♡
• The development of a broad-spectrum retaining β-exo-galactosidase activity-based probe. (2023/10/04) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Disease pathology signatures in a mouse model of Mucopolysaccharidosis type IIIB. (2023/10/04) ♡
• Perspectives of adult patients with lysosomal storage diseases on the transition from pediatric to adult healthcare in Turkey. (2023/10/01) ♡
• Venous Sinus Stenosis with Prominent Emissary Veins: A New Common Cranial MRI Finding of Mucopolysaccharidosis I. (2023/10/01) ♡
• Therapeutic potential of lithium chloride and valproic acid against neuronopathic types of mucopolysaccharidoses through induction of the autophagy process. (2023/10/01) ♡
• Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile. (2023/10/01) ♡
• Effects of Heparan sulfate acetyl-CoA: Alpha-glucosaminide N-acetyltransferase (HGSNAT) inactivation on the structure and function of epithelial and immune cells of the testis and epididymis and sperm parameters in adult mice. (2023/09/27) ♡
• Enhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts. (2023/09/14) ♡
• Femoral Structure and Biomechanical Characteristics in Sanfilippo Syndrome Type-B Mice. (2023/09/12) ♡
• Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing. (2023/09/11) ♡
• Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey. (2023/09/08) ♡
• The clinical and genotypic-phenotypic findings of mucopolysaccharidosis VI patients: an Iraqi single-study descriptive study. (2023/09/06) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Airway management in mucopolysaccharidosis: a retrospective case series review. (2023/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A new case of Melnick-Needles syndrome with skeletal manifestations: A case report. (2023/09/01) ♡
• Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients. (2023/09/01) ♡
• Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12. (2023/09/01) ♡
• Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan. (2023/08/28) ♡
• Role of the Lactide:Glycolide Ratio in PLGA Nanoparticle Stability and Release under Lysosomal Conditions for Enzyme Replacement Therapy of Lysosomal Storage Disorders. (2023/08/25) ♡
• 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. Joint manifestations revealing inborn metabolic diseases in adults: a narrative review. (2023/08/10) ♡
• Mapping brain networks in MPS I mice and their restoration following gene therapy. (2023/08/05) ♡
• 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-Plus Syndrome (MPSPS). (2023/08/03) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Vertebro-basilar stroke due to Bow-Hunter syndrome: an unusual presentation of rotatory atlanto-axial subluxation in a fourteen year old. (2023/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series. (2023/07/12) ♡
• A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. (2023/07/10) ♡
• 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. Tubulin Cytoskeleton in Neurodegenerative Diseases-not Only Primary Tubulinopathies. (2023/07/01) ♡
• 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. Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland. (2023/06/08) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. How did intraoperative neuromonitorization prevent tetraplegia? (2023/05/01) ♡
• Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases. (2023/05/01) ♡
• COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience. (2023/05/01) ♡
• IgG-cleavage protein allows therapeutic AAV gene delivery in passively immunized MPS IIIA mice. (2023/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites. (2023/03/16) ♡
• Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients. (2023/03/01) ♡
• Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders. (2023/03/01) ♡
• Discovery of small-molecule protein stabilizers toward exogenous alpha-l-iduronidase to reduce the accumulated heparan sulfate in mucopolysaccharidosis type I cells. (2023/02/05) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Evaluation of oxidative stress and mitochondrial function in a type II mucopolysaccharidosis cellular model: in vitro effects of genistein and coenzyme Q10. (2023/02/01) ♡
• Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. [Inborn error of metabolism and allogenic hematopoietic cell transplantation: Guidelines from the SFGM-TC]. (2023/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. 18-year follow-up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I. (2023/02/01) ♡
• 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. Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States. (2023/02/01) ♡
• 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. Current and new therapies for mucopolysaccharidoses. (2023/02/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Rare disease therapeutics: The future of medical genetics in a changing landscape. (2023/02/01) ♡
• Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Neuropsychology assessment and outcomes in adult mucopolysaccharidosis - A systematic review as the first step to service development in a large tertiary Lysosomal Storage Disorders centre. (2023/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Ocular Manifestations of Hurler-Scheie Syndrome: Recurrence of Host Disease in the Corneal Transplant. (2023/02/01) ♡
• 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. Cervical spine involvement in pediatric mucopolysaccharidosis patients: Clinical features, early diagnosis, and surgical management. (2023/01/06) ♡
• Facial and Cephalometric Features of Individuals With Mucopolysaccharidosis: A Cross-Sectional Study. (2023/01/01) ♡

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