04187 The genetic landscape of porphyria in Ireland
step forward to provide a simple to implement method to separate and identify relevant porphyrins in urine.Unfortunately, kits for the analysis of different biological matrices for porphyrins are hard to come by, using only urine, as a diagnostic tool does not cover the entirety of porphyria diagnostics.To rule out all forms of porphyrias, laboratories must either forward a sample to a different laboratory or delve into the world of developing an in house method for either plasma, blood or stool.
Authors
- Micheál Mac Aogáin (ORCID: https://orcid.org/0000-0002-1726-7700)
- Sarah Savage
- Nadia Brazil
- Niamh Stein
- Ruth Brennan
- Brendan Lawlor
- Aoife McConnon
- Craig Maher
- Vivion Crowley
Institutions
- Trinity College Dublin (IE)
- Munster Technological University (IE)
- St. James's Hospital (IE)
Publication Details
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1136/bmjgast-2024-icpp.63
- Primary Topic
- Indigenous Studies and Ecology
- Type
- article
- Field-Weighted Citation Impact
- 0.00