Diagnosis, management and monitoring of patients with Pompe disease in the UK
Jordi Díaz-Manera, Alexander Broomfield, James Davison, Patrick Deegan, Rachel Gould, Tarekegn Geberhiwot, Meredith K James, James B Lilleker, Reena Sharma · 2025
Read Diagnosis, management and monitoring of patients with Pompe disease in the UK by Jordi Díaz-Manera, Alexander Broomfield, James Davison, Patrick Deegan, Rachel Gould, Tarekegn Geberhiwot, Meredith K James, James B Lilleker, Reena Sharma (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12730829.txt.
Description
Jordi Díaz-Manera and co-authors set out shared guidance for Pompe disease care in the United Kingdom, published in 2025. Pompe disease is a rare inherited illness in which a missing enzyme lets sugar build up in cells, weakening muscle over time. It appears in infancy in one form and later in life in another, and the main care is enzyme replacement.
No standard UK guide existed, so nine expert clinicians reviewed the research and pooled their own practice. They drafted care statements, voted on them in secret, and met twice to reach agreement. The result covers how to spot the disease, start and track treatment, and watch patients over time. A shared guide should cut uneven care between centers.
Catalog record
| CREATOR | Jordi Díaz-Manera, Alexander Broomfield, James Davison, Patrick Deegan, Rachel Gould, Tarekegn Geberhiwot, Meredith K James, James B Lilleker, Reena Sharma |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 34 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |