Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications

BACKGROUND: Rare diseases are often un- or misdiagnosed for extended periods, resulting in a long diagnostic delay that may significantly add to the burden of the disease. An early diagnosis is particularly essential if a disease-modifying treatment is available. The purpose of this study was to ass...

Descripción completa

Detalles Bibliográficos
Autores principales: Kuiper, Gé-Ann, Meijer, Olga L. M., Langereis, Eveline J., Wijburg, Frits A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759238/
https://www.ncbi.nlm.nih.gov/pubmed/29310675
http://dx.doi.org/10.1186/s13023-017-0733-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759238/
https://www.ncbi.nlm.nih.gov/pubmed/29310675
http://dx.doi.org/10.1186/s13023-017-0733-y

Ejemplares similares