mucopolysaccharidosis

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mucopolysaccharidosis

[¦myü·kō‚päl·ē‚sak·ə·rə′dō·səs]
(medicine)
Any of several inborn metabolic disorders involving mucopolysaccharides; the six types are MPS I, Hurler's syndrome; MPS II, Hunter's syndrome; MPS III, Sanfillipo's syndrome; MPS IV, Morquio's syndrome; MPS V, Scheil's syndrome; and MPS VI, Maroteaux-Lamy's syndrome.
References in periodicals archive ?
Cumulative incidence rates of mucopolysaccharidoses in Germany.
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III.
A fibreoptic intubation technique for children with mucopolysaccharidoses using the laryngeal mask airway.
Those levels are elevated in newborns with mucopolysaccharidoses such as MPS VII, tipping off physicians to the impending problem.
Therapies in development: Enzyme replacement therapy (ERT); substrate reduction therapy (SRT); RNA-targeting drugs; stop codon read through therapy; gene replacement therapy; pharmacological chaperone therapy (PCT); hematopoietic stem cell transplantation (HSCT); enzyme enhancement therapy (EET); gene mutations; disease-causing enzymes; major brands for lysosomal storage disorders, type 1 and type 2 diabetes, and obesity; R&D pipelines for mucopolysaccharidoses, sphingolipidoses, and glycogen storage disorders; international classifi cation codes for endocrine, nutritional, and metabolic diseases; Genzymes ERT manufacturing problems, gastrointestinal permeation enhancement technology (GIPET), xenotransplantation, cell regeneration.
Le~ao Teles, Radiologic and neuroradiologic findings in the mucopolysaccharidoses, Journal of Pediatric Rehabilitation Medicine, Submitted (reference to another paper of these proceedings).
Heparan, keratan and dermatan sulphate can be distinguished by electrophoresis techniques to differentiate between the mucopolysaccharidoses.
Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue.
Wijburg, "Therapy for the mucopolysaccharidoses," Rheumatology, 2011; 50:49-59 supplement 5.
The immunochemical analysis of enzyme from mucopolysaccharidoses patients.