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Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations

A 78-year-old man with a history of neonatal anemia and jaundice and life-long photosensitivity was found to have harderoporphyria, as evidenced by increased porphyrins in urine, plasma, erythrocytes and feces including large amounts of harderoporphyrin in feces and erythrocytes. Two previously unde...

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מידע ביבליוגרפי
Main Authors: A. Moghe, V.M.S. Ramanujam, J.D. Phillips, R.J. Desnick, K.E. Anderson
פורמט: Artigo
שפה:Inglês
יצא לאור: Elsevier 2019-06-01
סדרה:Molecular Genetics and Metabolism Reports
גישה מקוונת:http://www.sciencedirect.com/science/article/pii/S2214426918301484
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