Hepatoerythropoietic porphyria with coexisting BTD and CNGB1 genetic mutations: a first case report
This is a first report of hepatoerythropoietic porphyria with coexisting <i>BTD</i> and <i>CNGB1</i> genetic mutations.
Authors
- Çağdaş Kaya (ORCID: https://orcid.org/0000-0002-4164-8319)
- Gülbüz Sezgin (ORCID: https://orcid.org/0000-0002-0774-2766)
- Ayli Heydari (ORCID: https://orcid.org/0000-0003-2881-6522)
- Oğuz Kızılay (ORCID: https://orcid.org/0009-0002-1170-5797)
- Ozan Kızılay (ORCID: https://orcid.org/0009-0003-8687-4402)
Institutions
- Bahçeşehir University (TR)
- Niğde Ömer Halisdemir Üniversitesi (TR)
- Sivas State Hospital (TR)
- Maltepe University (TR)
Publication Details
- Journal
- European Journal of Case Reports in Internal Medicine
- Published
- 2025-02-18
- DOI
- https://doi.org/10.12890/2025_005198
- Primary Topic
- Porphyrin Metabolism and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00