@article{efb7bbe2dbd04ab89d3e678d5569f364,
title = "Diagnostic Delay in Erythropoietic Protoporphyria",
abstract = "Erythropoietic protoporphyria is a photodermatosis presenting in childhood with severe pain on sun exposure. The diagnosis is often delayed because of the lack of awareness among pediatricians. We describe the diagnostic odyssey of 2 children presenting with symptoms of erythropoietic protoporphyria and report results of a survey of 129 affected individuals.",
keywords = "photodermatoses, phototoxicity, porphyria",
author = "Lala, {Sajel M.} and Hetanshi Naik and Manisha Balwani",
note = "Funding Information: The Porphyrias Consortium (U54DK083909) is part of Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), NCATS. This consortium is funded through collaboration between NCATS and NIDDK. M.B. received the NIDDK Career Development Award (K23 DK095946) and served on the advisory boards for Alnylam Pharma, Recordati rare diseases, and Mitsubishi Tanabe. The other authors declare no conflicts of interest. Publisher Copyright: {\textcopyright} 2018 Elsevier Inc.",
year = "2018",
month = nov,
doi = "10.1016/j.jpeds.2018.06.001",
language = "English",
volume = "202",
pages = "320--323.e2",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
}