We have located links that may give you full text access.
Journal Article
Review
Mucopolysaccharidoses.
The MPSs are a heterogeneous group of disorders caused by the deficiency of one of ten lysosomal enzymes and the resultant accumulation of glycosaminoglycans in tissues and organs. The phenotypic variations of each disorder are continuing to be expanded, while the biochemical explanation of these variations needs to be defined. Mucopolysaccharidoses should not be diagnosed solely on clinical grounds, since laboratory confirmation by specific enzyme assay in now available. Prenatal diagnosis is possible for MPSs by amniocentesis. Chorionic villus sampling offers the possibility of first trimester diagnosis. Carrier detection in Hunter's syndrome is not routinely performed, but new procedures may make this needed service more available. No definitive treatment is available. Bone marrow transplantation appears to improve the somatic disease, but correction of the central nervous system disorder may not be possible. The successful development of gene-therapy may in the future provide a means of treatment in MPSs. The management of MPSs can be improved by a better understanding of the natural history of the somatic and central nervous system deterioration in the different disorders. Systematic evaluation and appropriate treatment can lead to an improved quality of life.
Full text links
Related Resources
Trending Papers
Challenges in Septic Shock: From New Hemodynamics to Blood Purification Therapies.Journal of Personalized Medicine 2024 Februrary 4
Molecular Targets of Novel Therapeutics for Diabetic Kidney Disease: A New Era of Nephroprotection.International Journal of Molecular Sciences 2024 April 4
The 'Ten Commandments' for the 2023 European Society of Cardiology guidelines for the management of endocarditis.European Heart Journal 2024 April 18
A Guide to the Use of Vasopressors and Inotropes for Patients in Shock.Journal of Intensive Care Medicine 2024 April 14
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app