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Rare and hereditary disorders
Mucopolysaccharidosis
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Publications and studies (1371)
- Human iPSC-derived neural stem cells engraft and improve pathophysiology of MPS I mice. (2024/11/05) ♡
- Extracellular vesicles from microglial cells activated by abnormal heparan sulfate oligosaccharides from Sanfilippo patients impair neuronal dendritic arborization. (2024/11/04) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Intrathecal or intravenous AAV9-IDUA/RGX-111 at minimal effective dose prevents cardiac, skeletal and neurologic manifestations of murine MPS I. (2024/11/04) ♡
- Prevalence and natural history of gibbus deformity in patients with Hurler syndrome. (2024/11/01) ♡
- Synthesis of a deuterated disaccharide internal standard for LC-MS/MS quantitation of heparan sulfate in biological samples. (2024/11/01) ♡
- 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. [Adult and pediatric thesaurismosis: Lysosomal, lipid and glycogen storage diseases]. (2024/11/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Lentiviral Vector-Mediated Ex Vivo Hematopoietic Stem Cell Gene Therapy for Mucopolysaccharidosis IVA Murine Model. (2024/11/01) ♡
- Alterations in Hurler-Scheie Syndrome Revealed by Mass Spectrometry-Based Proteomics and Phosphoproteomics Analysis. (2024/11/01) ♡
- Analysis of Free Oligosaccharides in Urine by High-Performance Liquid Chromatography-Tandem Mass Spectrometry. (2024/11/01) ♡
- 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. Otorhinolaryngological Problems in Mucopolysaccharidoses: A Review of Common Symptoms in a Rare Disease. (2024/10/29) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model. (2024/10/25) ♡
- 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. Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement. (2024/10/23) ♡
- Early structural valve deterioration following transcatheter aortic valve implantation in a patient with Scheie syndrome: a case report. (2024/10/21) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. A rare case report of echocardiographic manifestations of cardiac involvement in mucopolysaccharidosis type I after hematopoietic stem cell transplantation. (2024/10/19) ♡
- Risk and clinical characteristics of spinal cord compression across different mucopolysaccharidosis types: A retrospective cohort study. (2024/10/18) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Posterior segment findings in Hunter Syndrome: Case report and review. (2024/10/11) ♡
- 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. A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II. (2024/10/10) ♡
- Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa. (2024/10/09) ♡
- 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. The diagnosis and management of mucopolysaccharidosis type II. (2024/10/08) ♡
- Production of active human iduronate-2-sulfatase (IDS) enzyme in Nicotiana benthamiana. (2024/10/04) ♡
- Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey. (2024/10/03) ♡
- The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil). (2024/10/01) ♡
- Classification of Infiltrative Heart Diseases MORAL-STAGE System. (2024/10/01) ♡
- Calculation of continuous reference intervals for biological parameters exhibiting strong age-dependent level changes: Its application to glycosaminoglycans and sialic acid in urine. (2024/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. "Mucopolysaccharidosis syndrome in a 9-year-old boy: oral-dental management and diagnostic considerations": a case report. (2024/09/27) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Intracranial tumor in a patient with mucopolysaccharidosis type 1 (Scheie syndrome): An extremely rare combination. (2024/09/27) ♡
- Oral Problems in Brazilian Individuals with Rare Genetic Diseases That Affect Skeletal Development. (2024/09/18) ♡
- Ready-to-use iPSC-derived microglia progenitors for the treatment of CNS disease in mouse models of neuropathic mucopolysaccharidoses. (2024/09/16) ♡
- Health service utilization, economic burden and quality of life of patients with mucopolysaccharidosis in China. (2024/09/06) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Behaviours and psychological symptoms of childhood dementia: two cases of psychosocial interventions. (2024/09/06) ♡
- Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate. (2024/09/04) ♡
- 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-Plus Syndrome: Is This a Type of Mucopolysaccharidosis or a Separate Kind of Metabolic Disease? (2024/09/04) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Successful use of an eye gaze AAC communication board by a young adult with advanced Sanfilippo Syndrome (MPS IIIA): Case report. (2024/09/02) ♡
- 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. Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond. (2024/09/01) ♡
- 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. Systematic Review of Genetic Substrate Reduction Therapy in Lysosomal Storage Diseases: Opportunities, Challenges and Delivery Systems. (2024/09/01) ♡
- Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey. (2024/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report. (2024/08/31) ♡
- Structure of the human heparan-α-glucosaminide N-acetyltransferase (HGSNAT). (2024/08/28) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Challenges in Diagnosing and Managing Hurler Syndrome: A Case Report. (2024/08/17) ♡
- The Role of the Gut Microbiota in Sanfilippo Syndrome's Physiopathology: An Approach in Two Affected Siblings. (2024/08/14) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Atypical Neuroimaging Findings in a Patient With Mucopolysaccharidosis Type VII (Sly Syndrome). (2024/08/13) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Novel Fundoscopic Features in Mucopolysaccharidosis Type VI: Multimodal Evaluation of Scleral Deposits. (2024/08/13) ♡
- 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 IIIE: A Real Human Disease or a Diagnostic Pitfall? (2024/08/09) ♡
- 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. Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review. (2024/08/06) ♡
- A GLB1 transgene with enhanced therapeutic potential for the preclinical development of ex-vivo gene therapy to treat mucopolysaccharidosis type IVB. (2024/08/06) ♡
- Real-world pharmacovigilance analysis of galsulfase: a study based on the FDA adverse event reporting system (FAERS) database. (2024/08/05) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pain management challenges in a patient with mucopolysaccharidosis IVA. (2024/07/28) ♡
- Three-dimensional Evaluation of Gait: Kinetics, Kinematics, and Electromyographic in Patients with Mucopolysaccharidosis Types IV and VI. (2024/07/22) ♡
- 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) ♡
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