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

Year Number of Results
1977 1
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1982 2
1984 1
1986 1
1990 2
1992 3
1993 3
1995 2
1996 3
1997 3
1998 9
1999 2
2000 2
2001 1
2002 1
2003 1
2004 1
2005 2
2006 1
2007 1
2010 2
2011 1
2012 1
2013 2
2014 6
2015 3
2016 3
2017 2
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2019 6
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2022 5
2023 1
2024 0

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73 results

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Page 1
Acute porphyrias - A neurological perspective.
Gerischer LM, Scheibe F, Nümann A, Köhnlein M, Stölzel U, Meisel A. Gerischer LM, et al. Brain Behav. 2021 Nov;11(11):e2389. doi: 10.1002/brb3.2389. Epub 2021 Oct 17. Brain Behav. 2021. PMID: 34661997 Free PMC article. Review.
AHPs are genetically inherited disorders that result from heme biosynthesis enzyme deficiencies and comprise four forms: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALA-dehydratase porphyria (ALADP …
AHPs are genetically inherited disorders that result from heme biosynthesis enzyme deficiencies and comprise four forms: acute intermittent …
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.
They are caused by well-characterized enzyme defects in the complex heme biosynthetic pathway and are divided into categories of acute vs non-acute or hepatic vs erythropoietic porphyrias. Acute hepatic porphyrias (acute intermittent porphyria, variegate porphyri …
They are caused by well-characterized enzyme defects in the complex heme biosynthetic pathway and are divided into categories of acute vs no …
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). The acute hepatic porphyrias include ALA dehydratase deficiency porphyria, acute intermittent porphyria (AIP), hereditary coproporphyria (HCP …
The erythropoietic porphyrias are congenital erythropoietic porphyria (CEP), and erythropoietic protoporphyria (EPP). The acute hepat …
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.
Precisely which of these chemicals builds up depends on the type of porphyria. Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), delta- …
Precisely which of these chemicals builds up depends on the type of porphyria. Porphyria is not a single disease but a group o …
The Porphyrias.
Muschalek W, Hermasch MA, Poblete-Gutiérrez P, Frank J. Muschalek W, et al. J Dtsch Dermatol Ges. 2022 Mar;20(3):316-331. doi: 10.1111/ddg.14743. J Dtsch Dermatol Ges. 2022. PMID: 35304965 Review.
Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex metabolic disorders and cover in detail the most common form of porphyria worldwide (porphyria cutanea tarda), the most frequent …
Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex me …
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
Wang B, Bonkovsky HL, Lim JK, Balwani M. Wang B, et al. Gastroenterology. 2023 Mar;164(3):484-491. doi: 10.1053/j.gastro.2022.11.034. Epub 2023 Jan 13. Gastroenterology. 2023. PMID: 36642627 Free PMC article. Review.
DESCRIPTION: The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of 5-aminolevulinic acid dehydra …
DESCRIPTION: The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent porphyria, …
Acute Porphyrias.
Besur S, Schmeltzer P, Bonkovsky HL. Besur S, et al. J Emerg Med. 2015 Sep;49(3):305-12. doi: 10.1016/j.jemermed.2015.04.034. Epub 2015 Jul 7. J Emerg Med. 2015. PMID: 26159905 Review.
The acute hepatic porphyrias are further classified into acute intermittent porphyria (AIP), hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of delta-aminolevulinic acid (ALA) dehydratase (ALADP). ...Initial manag …
The acute hepatic porphyrias are further classified into acute intermittent porphyria (AIP), hereditary coproporphyria, variegate …
The cutaneous porphyrias.
Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN. Schulenburg-Brand D, et al. Dermatol Clin. 2014 Jul;32(3):369-84, ix. doi: 10.1016/j.det.2014.03.001. Epub 2014 May 5. Dermatol Clin. 2014. PMID: 24891059 Review.
This review discusses the epidemiology, pathogenesis, clinical presentation, laboratory diagnosis, complications, and current approach to porphyria management. Although focusing mainly on their dermatological aspects, the article also covers the management of acute porp …
This review discusses the epidemiology, pathogenesis, clinical presentation, laboratory diagnosis, complications, and current approach to …
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.
The heterogeneous group of diseases called the porphyrias may all be characterised by derangement of specific stages in the haem biosynthetic pathway. In the acute porphyrias; acute intermittent porphyria, urophorphyrinogen 1 synthase, hereditary coproporphyria, coproporph …
The heterogeneous group of diseases called the porphyrias may all be characterised by derangement of specific stages in the haem biosyntheti …
A review of the clinical presentation, natural history and inheritance of variegate porphyria: its implausibility as the source of the 'Royal Malady'.
Hift RJ, Peters TJ, Meissner PN. Hift RJ, et al. J Clin Pathol. 2012 Mar;65(3):200-5. doi: 10.1136/jclinpath-2011-200276. Epub 2011 Nov 2. J Clin Pathol. 2012. PMID: 22049218 Review.
It has been suggested that King George III of Great Britain suffered from the haem biosynthetic disorder, variegate porphyria. This diagnosis is pervasive throughout the scientific and popular literature, and is often referred to as the 'Royal Malady.' ...Finally, t …
It has been suggested that King George III of Great Britain suffered from the haem biosynthetic disorder, variegate porphyria. …
73 results