Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach

BACKGROUND: MPS IIIA is a rare, degenerative pediatric genetic disease characterized by symptoms impacting cognition, mobility and behavior; the mean age of death is around 15 years of age. Currently, there are no approved therapies for MPS IIIA. METHODS: A two-year, multi-center, prospective, descr...

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Detalles Bibliográficos
Autores principales: Lanar, Sally, Parker, Samantha, O’Neill, Cara, Marrel, Alexia, Arnould, Benoit, Héron, Bénédicte, Muschol, Nicole, Wijburg, Frits A., Chakrapani, Anupam, Olivier, Sophie, Aiach, Karen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8864874/
https://www.ncbi.nlm.nih.gov/pubmed/35193633
http://dx.doi.org/10.1186/s13023-022-02208-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8864874/
https://www.ncbi.nlm.nih.gov/pubmed/35193633
http://dx.doi.org/10.1186/s13023-022-02208-w

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