Marisa Wexler, MS, senior science writer —

Forty previously unreported mutations in the HMBS gene have been identified and found to be associated with the development of acute intermittent porphyria. Researchers at the Icahn School of Medicine at Mount Sinai, New York, described the mutations in the study “…

A case involving a patient with erythropoietic protoporphyria (EPP) accompanied by liver damage highlights the need for increased awareness of porphyria among doctors making diagnoses, a case study reports. The case study, “Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report,” was published in World…