Letters to the EditorRecessive inheritance of erythropoietic protoporphyria with liver failure
References (5)
- et al.
Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria
J Invest Dermatol
(1994) - et al.
Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene
Biochem Biophys Res Commun
(1991)
There are more references available in the full text version of this article.
Cited by (23)
Developmental and Inherited Liver Disease
2023, MacSween's Pathology of the Liver, Eighth EditionDevelopmental and Inherited Liver Disease
2018, MacSween's Pathology of the LiverErythropoietic protoporphyria
2017, PielNew developments in erythropoietic porphyrias
2013, Actas Dermo-SifiliograficasCitation Excerpt :In clinical terms, these patients have the same dermatologic characteristics as the heterozygous patients. However, the risk of developing severe liver disease and liver failure requiring transplantation is much higher; close monitoring of liver function and protoporphyrin concentrations in plasma and feces is therefore recommended (Fig. 4).20 Recently, Holme et al.21 described a subgroup of 9 patients with recessive EPP (rEPP) with a characteristic palmar keratoderma.
Genetic and metabolic liver disease
2012, MacSween's Pathology of the LiverGenetic and Metabolic Liver Disease
2011, MacSween's Pathology of the Liver: Expert Consult: Online and Print
Copyright © 1994 Published by Elsevier Ltd.