2018
DOI: 10.1177/2326409818800346
View full text
|
|

Abstract: As therapies are developed for rare disorders, challenges of early diagnosis become particularly relevant. This article focuses on clinical recognition of mucopolysaccharidoses (MPS), a group of rare genetic diseases related to abnormalities in lysosomal function. As quality of outcomes with current therapies is impacted by timing of intervention, minimizing time to diagnosis is critical. The objective of this study was to characterize how, when, and to whom patients with MPS first present and develop tools to… Show more

Help me understand this page

Search citation statements

Order By: Relevance

Paper Sections

0
0
0
0
0

Citation Types

0
6
0

Publication Types

Select...

Relationship

0
0

Authors

Journals