Cumulative incidence rates of mucopolysaccharidoses
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses
types I, II and III.
Cardiac structural involvement in mucopolysaccharidoses
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