Children with erythropoietic protoporphyria (EPP) — who have severe skin hypersensitivity to sunlight — experience “markedly reduced” physical and…
Articles by Andrea Lobo, PhD
Blood levels of neurofilament light (NfL), a marker of nerve cell damage, are 68 times higher during an acute attack…
A rare mutation in the HFE gene, called H63D, was found to be the cause of hereditary hemochromatosis, a condition…
A 21-year-old woman with congenital erythropoietic porphyria (CEP) — the rarest type of porphyria — required a liver transplant…
Vitamin D supplementation significantly increases the levels of vitamin D and reduces its deficiency, which is prevalent in adults with…
A new mutation in the HMBS gene was identified as the cause of acute intermittent porphyria (AIP) in a…
People with acute intermittent porphyria (AIP) have high levels of three markers of kidney and liver injury in their…
Researchers in Italy hope to help clinicians more quickly recognize acute intermittent porphyria (AIP) in their case report of…
Throughout 2023, Porphyria News Today has brought you coverage of the latest developments in scientific research and treatment for…
A 33-year-old pregnant woman experiencing severe abdominal pain shortly before delivery and showing worsening neurological symptoms thereafter was misdiagnosed with…