Open issues in Mucopolysaccharidosis type I-Hurler

Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, u...

Descripción completa

Detalles Bibliográficos
Autores principales: Parini, Rossella, Deodato, Federica, Di Rocco, Maja, Lanino, Edoardo, Locatelli, Franco, Messina, Chiara, Rovelli, Attilio, Scarpa, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472858/
https://www.ncbi.nlm.nih.gov/pubmed/28619065
http://dx.doi.org/10.1186/s13023-017-0662-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472858/
https://www.ncbi.nlm.nih.gov/pubmed/28619065
http://dx.doi.org/10.1186/s13023-017-0662-9

Ejemplares similares