Have You Seen Maroteaux-Lamy?

Maroteaux-Lamy (MPS VI)—A Progressive, Devastating, and Under-Diagnosed Disease
This site is dedicated to improving awareness and early and accurate diagnosis of Maroteaux-Lamy syndrome, or mucopolysaccharidosis type VI (MPS VI), and to providing access to resources that will help advance optimal management of this disease across all relevant disciplines.
MPS VI is a rare and complex disease that exacts a staggering toll on those affected by it. The progressive and heterogeneous nature of MPS VI calls for increased awareness and aggressive, early diagnosis as breakthrough research moves us toward innovative treatment strategies.1
- Wilcox WR. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr. 2004;144(5 Suppl):S3-S14. Review.
- Swiedler SJ, Beck M, Bajbouj M, et al. Threshold effect of urinary glycosaminoglycans and the walk
test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet. In press.
|