A case of erythrogenic protoporphyria with thyrotoxicosis and liver dysfunction in an adult female

Erythropoietic protoporphyria (EPP) is an inherited metabolic disease caused by the deficiency in ferrochelatase (FECH) encoded by the gene, and it is inherited in an autosomal recessive manner. EPP usually produces acute pain photosensitivity after exposure to sunlight in infancy or early childhood...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Zhong nan da xue xue bao. Journal of Central South University. Yi xue ban 2023-11, Vol.48 (11), p.1769-1774
Hauptverfasser:	Li, Qingqing, Chen, Xiaoyan, Wang, Hong, Tuo, Biguang, Zhou, Zunlan, Yang, Lina
Format:	Artikel
Sprache:	chi ; eng
Schlagworte:	Adult Child, Preschool Female Humans Liver Failure Mutation Protoporphyria, Erythropoietic - complications Protoporphyria, Erythropoietic - genetics Thyrotoxicosis - complications
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!