Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2009 2
2010 2
2012 2
2013 2
2014 1
2015 3
2017 1
2018 2
2019 6
2022 1
2023 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

24 results

Results by year

Filters applied: . Clear all
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.
The erythropoietic porphyrias are congenital erythropoietic porphyria (CEP), and erythropoietic protoporphyria (EPP). ...Mutations affecting the erythroid form of ALA synthase (ALAS2) are most commonly associated with X-linked sideroblast …
The erythropoietic porphyrias are congenital erythropoietic porphyria (CEP), and erythropoietic protoporphyria ( …
Clinical Guide and Update on Porphyrias.
Stölzel U, Doss MO, Schuppan D. Stölzel U, et al. Gastroenterology. 2019 Aug;157(2):365-381.e4. doi: 10.1053/j.gastro.2019.04.050. Epub 2019 May 11. Gastroenterology. 2019. PMID: 31085196 Review.
Management of attacks requires intensive care, strict avoidance of porphyrinogenic drugs and other precipitating factors, caloric support, and often heme therapy. The non-acute porphyrias are porphyria cutanea tarda, erythropoietic protoporphyria, X-linked
Management of attacks requires intensive care, strict avoidance of porphyrinogenic drugs and other precipitating factors, caloric support, a …
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 …
Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.
Balwani M. Balwani M. Mol Genet Metab. 2019 Nov;128(3):298-303. doi: 10.1016/j.ymgme.2019.01.020. Epub 2019 Jan 24. Mol Genet Metab. 2019. PMID: 30704898 Free PMC article. Review.
Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare, genetic photodermatoses resulting from defects in enzymes of the heme-biosynthetic pathway. ...
Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare, genetic photodermatoses r
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. ...In about 2% of patients, overt disease
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of pr
Protoporphyrin IX-induced phototoxicity: Mechanisms and therapeutics.
Hussain Z, Qi Q, Zhu J, Anderson KE, Ma X. Hussain Z, et al. Pharmacol Ther. 2023 Aug;248:108487. doi: 10.1016/j.pharmthera.2023.108487. Epub 2023 Jun 29. Pharmacol Ther. 2023. PMID: 37392940 Review.
Abnormal accumulation of PPIX due to certain pathological conditions such as erythropoietic protoporphyria and X-linked protoporphyria causes painful phototoxic reactions of the skin, which can significantly impact daily life. ...
Abnormal accumulation of PPIX due to certain pathological conditions such as erythropoietic protoporphyria and X-lin
Experimental and approved treatments for skin photosensitivity in individuals with erythropoietic protoporphyria or X-linked protoporphyria: A systematic review.
Heerfordt IM, Lerche CM, Philipsen PA, Wulf HC. Heerfordt IM, et al. Biomed Pharmacother. 2023 Feb;158:114132. doi: 10.1016/j.biopha.2022.114132. Epub 2022 Dec 14. Biomed Pharmacother. 2023. PMID: 36525819 Free article. Review.
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are characterized by skin photosensitivity caused by accumulation of protoporphyrin IX. ...
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are characterized by skin photosens
[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 …
[Porphyrias-what is verified?].
Stölzel U, Kubisch I, Stauch T. Stölzel U, et al. Internist (Berl). 2018 Dec;59(12):1239-1248. doi: 10.1007/s00108-018-0509-z. Internist (Berl). 2018. PMID: 30328490 Review. German.
According to their clinical presentation and to each affected pathway, they are categorized into acute and non-acute as well as hepatic and erythropoietic porphyrias. Acute hepatic porphyrias, e.g. acute intermittent porphyria (AIP), porphyria variegata (VP), hereditary co …
According to their clinical presentation and to each affected pathway, they are categorized into acute and non-acute as well as hepatic and …
Phototesting in erythropoietic protoporphyria trials: A systematic review.
Heerfordt IM, Philipsen PA, Lerche CM, Wulf HC. Heerfordt IM, et al. Exp Dermatol. 2023 Jul;32(7):1042-1047. doi: 10.1111/exd.14809. Epub 2023 Apr 13. Exp Dermatol. 2023. PMID: 37052136 Review.
Severe skin pain when exposed to long wave ultraviolet radiation or visible light is the main symptom of erythropoietic protoporphyria (EPP). Treatment options for EPP are inadequate and new treatments are needed but hampered by the lack of valid efficacy outcomes. …
Severe skin pain when exposed to long wave ultraviolet radiation or visible light is the main symptom of erythropoietic protoporph
24 results