Congenital Erythropoietic Porphyria in a Neonate: Utility of Rapid Whole Genome Sequencing – A Case Report
This case highlights the diagnostic challenges of neonatal CEP, where systemic illness may obscure the classical signs. This underscores the value of a genomics-first approach in critically ill neonates.
Authors
- Daigo Kajikawa (ORCID: https://orcid.org/0000-0001-8960-1176)
- Kazuo Imagawa
- Toshiki Takenouchi (ORCID: https://orcid.org/0000-0002-7311-4135)
- Kenjiro Kosaki
- Ayako Hinata
- Hisato Suzuki
- Junichi Arai
- Rena Miura-Fuchino
- Yusuke Hoshino
- Yoshiya Yukitake
Institutions
- University of Tsukuba (JP)
- Okayama University (JP)
- Keio University (JP)
- University of Tsukuba Hospital (JP)
- Ibaraki Children's Hospital (JP)
Publication Details
- Journal
- Neonatology
- Published
- 2025-12-22
- DOI
- https://doi.org/10.1159/000550162
- Primary Topic
- Porphyrin Metabolism and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00