Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre
ARG1-D presents significant lifelong challenges with deteriorating mobility and more frequent metabolic crises. Current management strategies are insufficient for preventing progression, highlighting the need for innovative treatments like enzyme replacement and gene therapy.
Authors
- Karolina M. Stępień (ORCID: https://orcid.org/0000-0003-0148-6332)
- Diane Green
- Ana Jovanović (ORCID: https://orcid.org/0000-0002-1523-6580)
- Andrew Oldham
- Reena Sharma (ORCID: https://orcid.org/0000-0003-3334-8081)
- John Bassett (ORCID: https://orcid.org/0000-0002-8815-6012)
- Alison Woodall
Institutions
- Salford Royal NHS Foundation Trust (GB)
Publication Details
- Journal
- JIMD Reports
- Published
- 2024-09-10
- DOI
- https://doi.org/10.1002/jmd2.12450
- Citations
- 1
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.38