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.

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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
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article

04187 The genetic landscape of porphyria in Ireland

Micheál Mac Aogáin, Sarah Savage, Nadia Brazil, Niamh Stein et al.
Indigenous Studies and Ecology
article

04187 The genetic landscape of porphyria in Ireland

Micheál Mac Aogáin, Sarah Savage, Nadia Brazil, Niamh Stein, Ruth Brennan, Brendan Lawlor, Aoife McConnon, Craig Maher, Vivion Crowley
article en

Abstract

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.

Trinity College Dublin (IE), Munster Technological University (IE), St. James's Hospital (IE)
Openalex Percentile: Top 72%
Indigenous Studies and Ecology
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