Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort
Despite improvements in the understanding of the pathophysiology and advances in diagnostic and treatment approaches, propionic acidemia and its long-term complications can still lead to severe consequences. This comprehensive evaluation offers valuable insights into the multifaceted nature of PA.
Authors
- Rıza Köksal Özgül (ORCID: https://orcid.org/0000-0002-0283-635X)
- Hayrettin Hakan Aykan (ORCID: https://orcid.org/0000-0001-5136-3977)
- Serap Sivri (ORCID: https://orcid.org/0000-0001-8260-9984)
- Halil Tuna Akar (ORCID: https://orcid.org/0000-0003-1982-8046)
- Ayça Burcu Kahraman (ORCID: https://orcid.org/0000-0002-9563-0296)
- Ayşegül Tokatlı (ORCID: https://orcid.org/0000-0003-2812-9319)
- Yılmaz Yıldız (ORCID: https://orcid.org/0000-0001-9076-1388)
- Kısmet Çıkı (ORCID: https://orcid.org/0000-0002-6800-8848)
- Turgay Coşkun (ORCID: https://orcid.org/0000-0001-9589-0445)
- Ali Dursun (ORCID: https://orcid.org/0000-0003-1104-9902)
- Didem Yücel Yılmaz (ORCID: https://orcid.org/0000-0002-8418-9204)
- Berat Baran (ORCID: https://orcid.org/0009-0002-7253-1129)
Institutions
- Hacettepe University (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-02-15
- DOI
- https://doi.org/10.1515/jpem-2024-0366
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00