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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.
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 …
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 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 …
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 …
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.
Biochemistry of porphyria.
Moore MR. Moore MR. Int J Biochem. 1993 Oct;25(10):1353-68. doi: 10.1016/0020-711x(93)90683-6. Int J Biochem. 1993. PMID: 8224350 Review.
The acute porphyrias, Acute Intermittent Porphyria, Variegate Porphyria and Hereditary Coproporphyria are of most importance since attacks of these may be life-threatening. 4. ...
The acute porphyrias, Acute Intermittent Porphyria, Variegate Porphyria and Hereditary Coproporphyria are of most importance s …
Neurological and neuropsychiatric manifestations of porphyria.
Suh Y, Gandhi J, Seyam O, Jiang W, Joshi G, Smith NL, Ali Khan S. Suh Y, et al. Int J Neurosci. 2019 Dec;129(12):1226-1233. doi: 10.1080/00207454.2019.1655014. Epub 2019 Sep 1. Int J Neurosci. 2019. PMID: 31402774 Review.
Porphyrias are inherited disorders of the heme biosynthetic pathway, usually characterized by dermatological changes due to the accumulation of byproducts in the pathway. Select porphyrias also affect the nervous system, namely hereditary coproporphyria, acute inter …
Porphyrias are inherited disorders of the heme biosynthetic pathway, usually characterized by dermatological changes due to the accumulation …
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 …
50 results