Results 1 to 10 of about 32,710 (240)
Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]
PLoS ONE, 2016 BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Omar Khalid +7 more
doaj +11 more sources
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management [PDF]
International Journal of Molecular Sciences, 2020 Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme.
K. Sawamoto +6 more
semanticscholar +4 more sources
EMBO Molecular Medicine, 2020 Mucopolysaccharidosis IIIA is a neuronopathic lysosomal storage disease, characterised by heparan sulphate and other substrates accumulating in the brain.
Helen Parker +13 more
doaj +2 more sources
Case Report: Mucopolysaccharidosis Type I Treatment With α-L-Iduronidase Replacement Therapy
Frontiers in Pediatrics, 2022 Mucopolysaccharidosis is a rare disease and can be divided into seven different subtypes, according to the affected enzyme. Mucopolysaccharidosis type I, the first subtype discovered and reported, mainly affects the in vivo storage of degraded sugar. The
Ying Li, Deyun Liu, Yue Yu
doaj +1 more source
Mucopolysaccharidosis: A broad review
Indian Journal of Ophthalmology, 2022 Mucopolysaccharidosis (MPS) is a group of genetic disorders with seven types and 13 subgroups which are characterized by an inherent deficiency of the enzymes responsible for the degradation of glycosaminoglycans (GAGs).
Ritu Nagpal +6 more
semanticscholar +1 more source
MUCOPOLYSACHARIDOSIS II AND SURGERY /REVIEW/ [PDF]
Trakia Journal of Sciences, 2020 Patients with type mucopolysaccharidosis/MPS/ II usually undergo surgery at an early age before the diagnosed. Mucopolysaccharidosis, type II is also known as Hunter syndrome.Recurrent early surgical interventions, especially for hernia or carpal tunnel ...
K. Kalinova, K. Georgiev, I. Mladenova
doaj +1 more source
JMIR Research Protocols, 2021 BackgroundSince the underlying cause of idiopathic short stature can indeed be undiagnosed mucopolysaccharidosis type I, it is critical to identify patients with mucopolysaccharidosis type I among screened patients with idiopathic
Danyah Alsafadi +7 more
doaj +1 more source
Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement
Biomolecules, 2021 Mucopolysaccharidosis type I (MPS I) is a lysosomal disease, caused by a deficiency of the enzyme alpha-L-iduronidase (IDUA). IDUA catalyzes the degradation of the glycosaminoglycans dermatan and heparan sulfate (DS and HS, respectively).
C. Hampe +9 more
semanticscholar +1 more source
Fluoxetine ameliorates Mucopolysaccharidosis type IIIA.
Molecular Therapy, 2022 Mucopolysaccharidosis type IIIA is an autosomal recessive disorder caused by mutations in SGSH involved in the degradation of heparan sulfate. MPS-IIIA presents severe neurological symptoms like progressive developmental delay and mental retardation, for
Capuozzo Antonella +12 more
semanticscholar +1 more source
Mucopolysaccharidosis Type VI, an Updated Overview of the Disease
International Journal of Molecular Sciences, 2021 Mucopolysaccharidosis type VI, or Maroteaux–Lamy syndrome, is a rare, autosomal recessive genetic disease, mainly affecting the pediatric age group.
F. D’Avanzo +3 more
semanticscholar +1 more source