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March 16, 2022 News by Margarida Maia, PhD

New PPOX Mutation in Each Gene Tied to Variegate Porphyria in Boy

A boy in Iran was found to carry two copies of a previously unknown mutation in the PPOX gene that caused both skin and neurological symptoms of variegate porphyria (VP), according to a recent case report. “To the best of our knowledge, around 15 cases with homozygous VP [both…

July 6, 2018 News by Alice Melao

Rare Case of a Child with Acute Intermittent Porphyria and a Genetic Skin Disorder Reported

Medical researchers in India have reported an unusual case of coexisting acute intermittent porphyria (AIP) and a genetic skin disorder in a 9-year-old boy. The rare clinical case was described in the study, “A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy,”…

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