Hepatobiliary implications and complications in protoporphyria, a 20-year study
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Cited by (115)
Heme biosynthesis and the porphyrias
2019, Molecular Genetics and MetabolismCitation Excerpt :Autosomal recessive EPP associated with palmar keratoderma has also been associated with unexplained neurological symptoms [169]. Gallstones containing large amounts of protoporphyrin are common, and may require cholecystectomy at an unusually early age [187]. Liver function and liver protoporphyrin content are usually normal in EPP.
Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria
2019, Molecular Genetics and MetabolismClinical Guide and Update on Porphyrias
2019, GastroenterologyCitation Excerpt :FECH deficiency increases levels of metal-free erythrocyte PPIX, in contrast to secondary elevations of zinc-bound erythrocyte protoporphyrin that are caused by iron deficiency, lead intoxication, or hemolytic anemia.12 The lipophilic PPIX, which is eliminated via bile, is hepatotoxic at high concentrations, causing varying degrees of liver damage.107–109 Protoporphyrin-containing crystals can be detected as pathognomonic Maltese crosses upon histologic examination of liver sections under polarized light (Figure 2F).110
In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability
2015, Blood Cells, Molecules, and DiseasesProtoporphyria
2012, The Porphyrin Handbook: Medical Aspects of PorphyrinsApproaches to Treatment and Prevention of Human Porphyrias
2012, The Porphyrin Handbook: Medical Aspects of Porphyrins