Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation

We report on a 57 year old female patient who presented in acute respiratory failure with severe generalized weakness. She was previously misdiagnosed for over three decades as polymyositis. She was treated with enzyme replacement therapy (ERT) for over five years, after being diagnosed with late on...

Descripción completa

Detalles Bibliográficos
Autores principales: Maharaj, Mandat, Skidmore, David L., Croul, Sidney E., Brake, David J., Lochmuller, Hanns
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421430/
https://www.ncbi.nlm.nih.gov/pubmed/36046397
http://dx.doi.org/10.1016/j.ymgmr.2022.100896

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421430/
https://www.ncbi.nlm.nih.gov/pubmed/36046397
http://dx.doi.org/10.1016/j.ymgmr.2022.100896

Ejemplares similares