Publications by authors named "Mayur V Parkhi"
Article Synopsis
- - Erythropoietic protoporphyria (EPP) is characterized by nonblistering photosensitivity and can lead to liver issues in about 5% of cases, such as jaundice and liver disease.
- - Diagnosis involves clinical symptoms, increased levels of metal-free protoporphyrin in the blood, and genetic testing for mutations in the ferrochelatase (FECH) gene.
- - A case study of a 16-year-old boy with jaundice and photosensitivity showed liver pigmentation changes, confirming EPP through genetic analysis.