Ontology highlight
ABSTRACT:
SUBMITTER: Liu HM
PROVIDER: S-EPMC6385011 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Liu Hui-Min HM Deng Guo-Hong GH Mao Qing Q Wang Xiao-Hong XH
World journal of gastroenterology 20190201 7
<h4>Background</h4>Porphyria is a rare disease with complex classification. Erythropoietic protoporphyria (EPP) is an autosomal recessively inherited disease, and most are caused by mutations in the <i>FECH</i> gene. EPP combined with liver injury is even rarer.<h4>Case summary</h4>This paper reports a case of EPP which was admitted to the hospital with abnormal liver function and diagnosed by repeated questioning of medical history, screening of common causes of severe liver injury, and second ...[more]