ALLMedicine™ Mucopolysaccharidosis Center
Research & Reviews 751 results
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Gene Therapy; Leal AF, Alméciga-Díaz CJ
May 18th, 2022 - Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder (LSD) caused by mutations in gene encoding for GALNS enzyme. Lack of GALNS activity leads to the accumulation of glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfat...
The Journal of Pediatrics; Vollebregt AAM, Hoogeveen-Westerveld M et. al.
May 15th, 2022 - To assess the relationship between anti-Iduronidase sulfatase (IDS), IDS genotypes, phenotypes and their impact in enzyme replacement therapy (ERT)-treated Mucopolysaccharidosis type II patients. Dutch ERT-treated patients were analyzed in this ob...
May 13th, 2022 - Laboratory Studies The diagnosis is based on the clinical picture, radiographic findings, and laboratory results. The diagnosis of mucopolysaccharidosis can be achieved by nonenzymatic screening methods, including the 2-dimensional electrophoresis...
Cardiovascular Pathology : the Official Journal of the So... Ballantyne M, Chiu B et. al.
May 11th, 2022 - To report two unusual presentations of mucopolysaccharidosis type III (Sanfilippo syndrome) and provide evidence for the cardiac involvement. We report two siblings with cardiac involvement that were diagnosed in childhood with Sanfilippo A Syndro...
Orphanet Journal of Rare Diseases; Magner M, Almássy Z et. al.
May 11th, 2022 - Mucopolysaccharidosis IVA (MPS IVA), or Morquio A syndrome, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase. A progressive systemic skeletal chondrodysplasia, leading to signifi...
Guidelines 2 results
Orphanet Journal of Rare Diseases; de Ru MH, Boelens JJ et. al.
Aug 13th, 2011 - Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder that results in the accumulation of glycosaminoglycans causing progressive multi-organ dysfunction. Its clinical spectrum is very broad and varies from the severe Hurler phenotyp...
Pediatrics Muenzer J, Wraith JE et. al.
Jan 2nd, 2009 - Disease management for mucopolysaccharidosis type I has been inconsistent because of disease rarity (approximately 1 case per 100,000 live births), phenotypic heterogeneity, and limited therapeutic options. The availability of hematopoietic stem c...
Drugs 7 results see all →
Clinicaltrials.gov 32 results
May 9th, 2022 - Prospective observation duration for each patient: at least 12 months (from enrollment)
Apr 29th, 2022 - A Global Phase III multicenter, randomized, assessor-blinded, active-controlled designed to evaluate safety and efficacy of study drug for the treatment of the MPS II.
Apr 1st, 2022 - MARS is a multicenter, multinational, observational disease registry for patients diagnosed with Mucopolysaccharidosis Type IVA (MPS IVA). The Registry will collect medical history, and clinical and safety assessments every six months, for up to 1...
Mar 29th, 2022 - This is a multicenter, multiregional, open-label study to assess the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of DNL310, an investigational central nervous system (CNS)-penetrant enzyme replacement therapy (ERT), designed to treat ...
Mar 17th, 2022 - Mucopolysaccharidosis IVA (MPS IVA, Morquio A Disease) is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, N-acetylgalactosamine 6-sulfate sulfatase (GALNS). GALNS catalyzes the degradation of the glycosaminoglyc...
News 20 results
Mar 22nd, 2022 - In a draft guidance published yesterday, The National Institute for Health and Care Excellence (NICE) has recommended elosulfase alfa (Vimizin; BioMarin) for routine use within the NHS for the treatment of mucopolysaccharidosis type 4A (MPS 4A), a...
Dec 21st, 2021 - Shannon Smith describes her daughter's birth as not all that eventful. She and her husband drove 10 minutes from their home in rural Alabama across the state line to a hospital in Georgia where they had scheduled a C-section for what was anticipat...
Apr 23rd, 2021 - A gene therapy strategy has produced impressive results in patients with Sanfilippo syndrome type A (mucopolysaccharidosis IIIA). Most of the benefit from the treatment came in patients who began treatment at younger age, but comparisons to natura...
Apr 22nd, 2021 - A gene therapy strategy has produced impressive results in patients with Sanfilippo syndrome type A (mucopolysaccharidosis IIIA). Most of the benefit from the treatment came in patients who began treatment at younger age, but comparisons to natura.
Sep 18th, 2020 - Answer 2/5 Which of the following conditions presents in a similar way to AADC deficiency? Your peers chose: Gaucher disease 0% Mucopolysaccharidosis 0% Alpha-1 antitrypsin deficiency 0% Tetrahydrobiopterin (BH4) deficiency 0% BH4 deficiency prese...