Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals

BACKGROUND: Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limiting consequences. There are no approved therapies for this condition. Also, there...

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Detalles Bibliográficos
Autores principales: Pascoal, C., Ferreira, I., Teixeira, C., Almeida, E., Slade, A., Brasil, S., Francisco, R., Ligezka, A. N., Morava, E., Plotkin, H., Jaeken, J., Videira, P. A., Barros, L., dos Reis Ferreira, V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9618201/
https://www.ncbi.nlm.nih.gov/pubmed/36309700
http://dx.doi.org/10.1186/s13023-022-02551-y

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