Digenic Inheritance of Mutations in the Coproporphyrinogen Oxidase and Protoporphyrinogen Oxidase Genes in a Unique Type of Porphyria

Autor: Anne Moniek van Tuyll van Serooskerken, J. H. Paul Wilson, Jorge Frank, Michel van Geel, Reno S. Bladergroen, Sylvia Joussen, Felix W. M. de Rooij, P.M. Steijlen, Rita Koole, Pamela Poblete-Gutiérrez, Annie Edixhoven, Hans F. Merk, Kornelis Te Velde, Jens M. Baron

Publikováno v: Journal of Investigative Dermatology, 131(11), 2249-2254. Nature Publishing Group
Journal of Investigative Dermatology, 131(11), 2249-2254. Elsevier Science

The simultaneous dysfunction of two enzymes within the heme biosynthetic pathway in a single patient is rare. Not more than 15 cases have been reported. A woman with a transient episode of severe photosensitivity showed a biochemical porphyrin profil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47e662bc33490bf7cf8d0ac22e04cb1f
https://doi.org/10.1038/jid.2011.186

The acute hepatic porphyrias: Current status and future challenges

Autor: Anne Moniek van Tuyll van Serooskerken, Marko Siegesmund, Pamela Poblete-Gutiérrez, Jorge Frank

Publikováno v: Best Practice & Research in Clinical Gastroenterology, 24(5), 593-605. ELSEVIER SCI LTD

The porphyrias are predominantly inherited metabolic disorders, which result from a specific deficiency of one of the eight enzymes along the pathway of haem biosynthesis. Historically, they have been classified into hepatic and erythropoietic forms,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b51502593da5688076a7e61788247d4f
https://cris.maastrichtuniversity.nl/en/publications/93e44b1c-3ab2-4011-a55a-93bbd5f6d002