ALLMedicine™ Variegate Porphyria Center
Research & Reviews 68 results
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...
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...
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 ...
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 ...
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...
Guidelines 1 results
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...
News 1 results
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.