mucopolysaccharidosis - Robuta Search

https://experts.umn.edu/en/publications/long-term-cognitive-and-functional-outcomes-in-children-with-muco/ Long-term cognitive and functional outcomes in children with mucopolysaccharidosis (MPS)-IH (Hurler... https://pediatrics.ucsf.edu/node/301876 Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. |... cardiac disease in patients mucopolysaccharidosis presentation diagnosis https://www.news-medical.net/health/Mucopolysaccharidosis-Clinical-Features.aspx Mucopolysaccharidosis Clinical Features Apr 6, 2021 - Mucopolysaccharidoses (MPS) are a prominent group of genetic lysosomal storage diseases. mucopolysaccharidosis clinical features https://experts.umn.edu/en/publications/persistent-bone-and-joint-disease-despite-current-treatments-for-/ Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II,... bone and joint https://www.cochrane.org/evidence/CD009354_enzyme-replacement-therapy-laronidase-treatment-mucopolysaccharidosis-type-i-mps-i Enzyme replacement therapy with laronidase as a treatment for mucopolysaccharidosis type I (MPS I)... enzyme replacement therapy https://www.techtransfer.nih.gov/patent/e-229-2020-0-co-01 Methods Of Combination Therapy For Treatment Of Mucopolysaccharidosis Type IVA Using Human... combination therapy methods https://pearltrial.ucsf.edu/mucopolysaccharidosis-type-4a Mucopolysaccharidosis type 4a | Prenatal Enzyme Replacement for Lysosomal Diseases | PEARL Trial enzyme replacement mucopolysaccharidosis type prenatal https://med.umn.edu/pediatrics/programs-centers-institutes/mucopolysaccharidosis-mps-center Mucopolysaccharidosis (MPS) Center | Medical School mucopolysaccharidosis mps center medical school https://pmc.ncbi.nlm.nih.gov/articles/PMC41213/ Phenotype correction in retinal pigment epithelium in murine mucopolysaccharidosis VII by... We have studied the use of adenovirus-mediated gene transfer to reverse the pathologic changes of lysosomal storage disease caused by beta-glucuronidase... phenotype correction retinal pigment epithelium https://pubmed.ncbi.nlm.nih.gov/34458603/ Long-term evolution of mucopolysaccharidosis type I in twins treated with enzyme replacement... Mucopolysaccharidoses (MPSs) are a heterogeneous group of diseases that have in common the accumulation of glycosaminoglycans (mucopolysaccharides) within the... https://pearltrial.ucsf.edu/mucopolysaccharidosis-type-1 Mucopolysaccharidosis type 1 | Prenatal Enzyme Replacement for Lysosomal Diseases | PEARL Trial enzyme replacement mucopolysaccharidosis type prenatal https://cir.nii.ac.jp/crid/1390002184882698240?lang=ja A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and... basic understanding clinical features mucopolysaccharidosis incidence diagnosis https://www.fda.gov/regulatory-information/search-fda-guidance-documents/mucopolysaccharidosis-type-iii-sanfilippo-syndrome-developing-drugs-treatment-guidance-industry Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Developing Drugs for Treatment Guidance for... type iii mucopolysaccharidosis sanfilippo syndrome developing https://pubmed.ncbi.nlm.nih.gov/30517303/ Audiometric evaluation in individuals with mucopolysaccharidosis Most of the individuals with mucopolysaccharidosis types I, II, III, IV and VI presented mixed or conductive hearing losses of mild to moderately severe... audiometric evaluation individuals mucopolysaccharidosis https://researchdiscovery.drexel.edu/esploro/outputs/journalArticle/Caveat-to-genotype-phenotype-correlation-in-mucopolysaccharidosis/991020830724904721 Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: Discordant clinical... Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the... phenotype correlation caveat genotype https://www.cirm.ca.gov/clinical-trial/advancing-isp-001-for-mucopolysaccharidosis-i-clinical-expansion-clinical-manufacturing-and-release-testing/ Advancing ISP-001 for Mucopolysaccharidosis I: Clinical Expansion, Clinical Manufacturing and... advancing isp mucopolysaccharidosis clinical expansion https://pubmed.ncbi.nlm.nih.gov/37488890/ Mucopolysaccharidosis type IIIB: a current review and exploration of the AAV therapy landscape Mucopolysaccharidoses type IIIB is a rare genetic disorder caused by mutations in the gene that encodes for N-acetyl-alpha-glucosaminidase. This results in the... https://www.ncbi.nlm.nih.gov/clinvar/RCV001951202/ NM_000203.5(IDUA):c.1088_1089dup (p.Thr364fs) AND Mucopolysaccharidosis type 1 - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://pediatrics.ucsf.edu/node/301871 Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase... enzyme replacement therapy https://rarediseases.info.nih.gov/diseases/6675/mucopolysaccharidosis-mps-ii Mucopolysaccharidosis, MPS-II | About the Disease | GARD Find symptoms and other information about Mucopolysaccharidosis, MPS-II. about the disease mps ii mucopolysaccharidosis gard https://www.businesswire.com/news/home/20250624122250/en/Notice-of-Orphan-Drug-Designation-for-JR-446-for-Mucopolysaccharidosis-Type-IIIB-by-European-Commission-EC Notice of Orphan Drug Designation for JR-446 for Mucopolysaccharidosis Type IIIB by European... JCR and MEDIPAL announced that the EC has granted ODD to JR-446, an investigational drug for the treatment of mucopolysaccharidosis type IIIB. orphan drug designation https://conservancy.umn.edu/items/0773f1f7-15a1-4079-be12-53481b3ddd19 Molecular therapy for mucopolysaccharidosis Type I Mucopolysaccharidosis type I (MPS I) is caused by deficiency of the lysosomal hydrolase alpha-L-iduronidase (IDUA). IDUA is a required component of the... molecular therapy mucopolysaccharidosis type https://www.nice.org.uk/guidance/indevelopment/gid-ta11701/documents Project documents | Rebisufligene etisparvovec for treating mucopolysaccharidosis type IIIA... Rebisufligene etisparvovec for treating mucopolysaccharidosis type IIIA [ID6540] project documents treating mucopolysaccharidosis type iiia https://www.frontiersin.org/journals/molecular-biosciences/articles/10.3389/fmolb.2021.783644/full Frontiers | Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the... The mutations in IDUA gene cause a deficiency of the lysosomal enzyme alpha-L-iduronidase (IDUA) which leads to a rare disease known as mucopolysaccharidosis... the russian federation https://profiles.wustl.edu/en/publications/ocular-lesions-in-canine-mucopolysaccharidosis-i-and-response-to-/ Ocular lesions in Canine mucopolysaccharidosis I and response to enzyme replacement therapy - WashU... https://www.businesswire.com/news/home/20250507299102/en/Notice-of-Orphan-Drug-Designation-for-JR-446-for-Mucopolysaccharidosis-Type-IIIB-by-the-U.S.-FDA Notice of Orphan Drug Designation for JR-446 for Mucopolysaccharidosis Type IIIB by the U.S. FDA MEDIPAL and JCR announced that the U.S. FDA granted orphan drug designation (ODD) to JR-446, an investigational drug for the treatment of MPS IIIB. https://pubmed.ncbi.nlm.nih.gov/25567323/ Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C... Severe progressive neurological paediatric disease mucopolysaccharidosis III type C is caused by mutations in the HGSNAT gene leading to deficiency of... neuroinflammation mitochondrial defects neurodegeneration mucopolysaccharidosis https://www.researchandmarkets.com/reports/6109277/mucopolysaccharidosis-iii-sanfilippo Mucopolysaccharidosis III (Sanfilippo Syndrome):Market View This reports provides a data-driven overview of the current and future competitive landscape in Mucopolysaccharidosis III (Sanfilippo Syndrome) Therapeutics.... mucopolysaccharidosis iii sanfilippo syndrome market