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About 175 results

ALLMedicine™ Variegate Porphyria Center

Research & Reviews  68 results

Update on the diagnosis and management of the autosomal dominant acute hepatic porphyrias.
https://doi.org/10.1136/jclinpath-2021-207647
Journal of Clinical Pathology; Schulenburg-Brand D, Stewart F et. al.

May 19th, 2022 - The autosomal dominant acute hepatic porphyrias (AHPs), acute intermittent porphyria, hereditary coproporphyria (HCP) and variegate porphyria (VP), are low penetrance adult onset disorders caused by partial deficiency of enzymes of haem biosynthes...

Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pe...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8991793
Orphanet Journal of Rare Diseases; Marcacci M, Ricci A et. al.

Apr 9th, 2022 - Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis. AHP patients can experience potentially life-threatening acute attacks, characterized by se...

Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort stud...
https://doi.org/10.1111/joim.13463
Journal of Internal Medicine; Lissing M, Vassiliou D et. al.

Feb 4th, 2022 - The acute hepatic porphyrias (AHP) are associated with a risk of primary liver cancer (PLC), but risk estimates are unclear, and what AHP characteristics that predict PLC risk are unknown. In this register-based, matched cohort study, we assessed ...

Heterologous expression and purification of recombinant human protoporphyrinogen oxidas...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8601502
PloS One; Novakova Z, Khuntsaria D et. al.

Nov 19th, 2021 - Human protoporphyrinogen oxidase IX (hPPO) is an oxygen-dependent enzyme catalyzing the penultimate step in the heme biosynthesis pathway. Mutations in the enzyme are linked to variegate porphyria, an autosomal dominant metabolic disease. Here we ...

ABCB6 polymorphisms are not overly represented in patients with porphyria.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8945301
Blood Advances; Farrell CP, Nicolas G et. al.

Nov 2nd, 2021 - The Mendelian inheritance pattern of acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria is autosomal dominant, but the clinical phenotype is heterogeneous. Within the general population, penetrance is low, but among f...

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Guidelines  1 results

Best practice guidelines on clinical management of acute attacks of porphyria and their...
https://doi.org/10.1177/0004563212474555
Annals of Clinical Biochemistry; Stein P, Badminton M et. al.

Apr 23rd, 2013 - The British and Irish Porphyria Network guidelines describe best practice in the clinical assessment, investigation and management of acute porphyria attacks and their complications, including severe attacks with neuropathy. Acute attacks of porph...

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News  1 results

Practice Question Answers: Porphyrias
https://www.mdedge.com/dermatology/article/68590/practice-question-answers-porphyrias
William W. Huang, MD, MPH

Feb 1st, 2013 - 1. Which of the following enzymes of the heme synthesis pathway is found in the mitochondria? a.

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