An Enigmatic Case of Jaundice and Photosensitivity in an Adolescent
Bhagat N, Singh P, De A, Mitra S, Kumar A, Dhanasekaran V, Parkhi M, Ray D, Duseja A. An Enigmatic Case of Jaundice and Photosensitivity in an Adolescent. ACG Case Reports Journal 2023, 10: e00996. PMID: 36891180, PMCID: PMC9988325, DOI: 10.14309/crj.0000000000000996.Peer-Reviewed Original ResearchLoss-of-function mutationsErythropoietic protoporphyriaGenetic analysisInborn error of heme biosynthesisEnd-stage liver diseaseAdolescent boysHepatobiliary manifestationsAbdominal painProgressive jaundiceClinical featuresLiver diseaseLiver enzymesJaundiceInborn errorsMetal-free protoporphyrinProtoporphyrin depositionHeme biosynthesisLiverFerrochelataseMutationsBrown pigmentBoysCholelithiasisPainProtoporphyrin
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