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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 …
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 acute hepatic porphyrias include ALA dehydratase deficiency porphyria, acute intermittent porphyria (AIP), hereditary coproporphyria (HCP) and variegate porphyria (VP). Porphyria cutanea tarda (PCT) is the only porphyria that has both genetic and/or environmenta …
The acute hepatic porphyrias include ALA dehydratase deficiency porphyria, acute intermittent porphyria (AIP), hereditary copropor …
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 …
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 porphy …
In the acute porphyrias; acute intermittent porphyria, urophorphyrinogen 1 synthase, hereditary coproporphyria, coproporphyrin …
[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), …
The clinical classification distinguishes between acute porphyria (acute intermittent porphyria, porphyria variegata, hereditary c …
63 results