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1999 5
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2004 4
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117 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.
Acute hepatic porphyrias (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and aminolevulinic acid dehydratase deficient porphyria) manifest in attacks and are characterized by overproduction of porphyrin precursors, producing often seri …
Acute hepatic porphyrias (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and aminolevulinic aci …
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), hepatoery …
Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria
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 dehydratase. ...
DESCRIPTION: The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent porphyria, here
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.
Although focusing mainly on their dermatological aspects, the article also covers the management of acute porphyria, which by virtue of its association with variegate porphyria and hereditary coproporphyria, may become the responsibility of the clinical dermatologis …
Although focusing mainly on their dermatological aspects, the article also covers the management of acute porphyria, which by virtue of its …
Hereditary coproporphyria.
Martásek P. Martásek P. Semin Liver Dis. 1998;18(1):25-32. doi: 10.1055/s-2007-1007137. Semin Liver Dis. 1998. PMID: 9516675 Review.
Hereditary coproporphyria (HC) is a rare acute hepatic porphyria. Attacks may be precipitated by certain drugs, alcohol, infections, or low caloric intake. ...
Hereditary coproporphyria (HC) is a rare acute hepatic porphyria. Attacks may be precipitated by certain drugs, alcohol, infec
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). ...
The acute hepatic porphyrias are further classified into acute intermittent porphyria (AIP), hereditary coproporphyria, varieg …
Neurological Manifestations of Acute Porphyrias.
Wylie K, Testai FD. Wylie K, et al. Curr Neurol Neurosci Rep. 2022 Jul;22(7):355-362. doi: 10.1007/s11910-022-01205-7. Epub 2022 Jun 4. Curr Neurol Neurosci Rep. 2022. PMID: 35665475 Review.
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); erythropoi …
Porphyria and its neurologic manifestations.
Tracy JA, Dyck PJ. Tracy JA, et al. Handb Clin Neurol. 2014;120:839-49. doi: 10.1016/B978-0-7020-4087-0.00056-5. Handb Clin Neurol. 2014. PMID: 24365356 Review.
They can produce significant disease of both the peripheral and central nervous systems, in addition to other organ systems, with acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria as the subtypes associated with neurologic manifestatio …
They can produce significant disease of both the peripheral and central nervous systems, in addition to other organ systems, with acute inte …
117 results