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Page 1
Heme biosynthesis and the porphyrias.
Phillips JD. Phillips JD. Mol Genet Metab. 2019 Nov;128(3):164-177. doi: 10.1016/j.ymgme.2019.04.008. Epub 2019 Apr 22. Mol Genet Metab. 2019. PMID: 31326287 Free PMC article. Review.
In each porphyria the distinct patterns of these substances in plasma, erythrocytes, urine and feces are the basis for diagnostically defining the metabolic defect underlying the clinical observations. Porphyrias may also be classified as either erythropoietic or hepatic, …
In each porphyria the distinct patterns of these substances in plasma, erythrocytes, urine and feces are the basis for diagnostically defini …
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Ramanujam VS, Anderson KE. Ramanujam VS, et al. Curr Protoc Hum Genet. 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86. Curr Protoc Hum Genet. 2015. PMID: 26132003 Free PMC article. Review.
Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), delta-aminolevulinic acid dehydratase deficiency porphyria (ADP), porphyria cutanea tarda (PCT), hepatoerythropoietic po …
Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), varieg …
Cimetidine for erythropoietic protoporphyria.
Heerfordt IM, Lerche CM, Wulf HC. Heerfordt IM, et al. Photodiagnosis Photodyn Ther. 2022 Jun;38:102793. doi: 10.1016/j.pdpdt.2022.102793. Epub 2022 Mar 2. Photodiagnosis Photodyn Ther. 2022. PMID: 35245673 Free article. Review.
BACKGROUND: Erythropoietic protoporphyria (EPP) is caused by deficiency of the enzyme converting protoporphyrin IX (PpIX) into heme resulting in accumulation of PpIX; leading to photosensitivity and liver toxicity. ...Eleven of the 15 patients reported a decrease in …
BACKGROUND: Erythropoietic protoporphyria (EPP) is caused by deficiency of the enzyme converting protoporphyrin IX (PpIX) into …
[The cutaneous porphyrias].
Cuny JF. Cuny JF. Ann Dermatol Venereol. 2019 Feb;146(2):143-159. doi: 10.1016/j.annder.2018.12.005. Epub 2019 Jan 30. Ann Dermatol Venereol. 2019. PMID: 30709634 Review. French.
The clinical classification distinguishes between acute porphyria (acute intermittent porphyria, porphyria variegata, hereditary coproporphyria), bullous cutaneous porphyrias (porphyria cutanea tarda, porphyria variegata and hereditary coproporphyria), painful photosensitive acut …
The clinical classification distinguishes between acute porphyria (acute intermittent porphyria, porphyria variegata, hereditary coproporphy …
Erythropoietic protoporphyria.
Lecha M, Puy H, Deybach JC. Lecha M, et al. Orphanet J Rare Dis. 2009 Sep 10;4:19. doi: 10.1186/1750-1172-4-19. Orphanet J Rare Dis. 2009. PMID: 19744342 Free PMC article. Review.
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. EPP has been reported worldwide, with pre
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of pr
Liver disease and erythropoietic protoporphyria: a concise review.
Casanova-González MJ, Trapero-Marugán M, Jones EA, Moreno-Otero R. Casanova-González MJ, et al. World J Gastroenterol. 2010 Sep 28;16(36):4526-31. doi: 10.3748/wjg.v16.i36.4526. World J Gastroenterol. 2010. PMID: 20857522 Free PMC article. Review.
The porphyries are a group of metabolic disorders characterized by deficiencies in the activity of enzymes involved in the biosynthesis of heme. In erythropoietic protoporphyria (EPP), in the majority of cases an autosomal dominant disease, there is a mutation of th …
The porphyries are a group of metabolic disorders characterized by deficiencies in the activity of enzymes involved in the biosynthesis of h …
The porphyrias.
Moore MR, McColl KE, Goldberg A. Moore MR, et al. Diabete Metab. 1979 Dec;5(4):323-36. Diabete Metab. 1979. PMID: 398301 Review.
In the acute porphyrias; acute intermittent porphyria, urophorphyrinogen 1 synthase, hereditary coproporphyria, coproporphyrinogen oxidase and variegate porphyria, ferrochelatase or protoporphyrinogen oxidase, are the enzymes affected, whilst in the non acute porphyrias, c …
In the acute porphyrias; acute intermittent porphyria, urophorphyrinogen 1 synthase, hereditary coproporphyria, coproporphyrinogen ox …
Afamelanotide: A Review in Erythropoietic Protoporphyria.
Kim ES, Garnock-Jones KP. Kim ES, et al. Am J Clin Dermatol. 2016 Apr;17(2):179-85. doi: 10.1007/s40257-016-0184-6. Am J Clin Dermatol. 2016. PMID: 26979527 Review.
Afamelanotide (SCENESSE()) is a synthetic alpha-melanocyte stimulating hormone analogue and first-in-class melanocortin-1 receptor agonist that is approved in the EU for the prevention of phototoxicity in adults with erythropoietic protoporphyria (EPP). ...
Afamelanotide (SCENESSE()) is a synthetic alpha-melanocyte stimulating hormone analogue and first-in-class melanocortin-1 receptor ag …
The cutaneous porphyrias.
Elder GH. Elder GH. Semin Dermatol. 1990 Mar;9(1):63-9. Semin Dermatol. 1990. PMID: 2203445 Review.
There are five main types: porphyria cutanea tarda (PCT); variegate porphyria (VP); hereditary coproporphyria (HC); erythropoietic protoporphyria (EPP); and congenital erythropoietic porphyria (CEP). ...
There are five main types: porphyria cutanea tarda (PCT); variegate porphyria (VP); hereditary coproporphyria (HC); erythropoietic
Living-Donor Liver Transplantation for Erythropoietic Protoporphyria: A Case Report and Literature Review.
Ogasawara H, Tokodai K, Nakanishi W, Fujio A, Kashiwadate T, Shono Y, Ohta M, Ishikawa Y, Miyagi S, Fujishima F, Unno M, Kamei T. Ogasawara H, et al. Tohoku J Exp Med. 2023 Oct 7;261(2):117-122. doi: 10.1620/tjem.2023.J061. Epub 2023 Jul 27. Tohoku J Exp Med. 2023. PMID: 37495523 Free article. Review.
Erythropoietic protoporphyria (EPP) is a very rare disease with an estimated prevalence of 1 in 200,000 individuals. ...
Erythropoietic protoporphyria (EPP) is a very rare disease with an estimated prevalence of 1 in 200,000 individuals. ..
44 results