Variegate Porphyria
What's New
Last Posted: Mar 03, 2023
- A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Barman-Aksözen Jasmin, et al. Scandinavian journal of clinical and laboratory investigation 2019 0 (5) 305-313 - ABCB6 polymorphisms are not overly represented in patients with porphyria.
Farrell Colin P, et al. Blood advances 2021 0 (3) 760-766 - Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.
de Villiers J Nico P, et al. Experimental dermatology 2005 0 (1) 50-5 - Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.
Lissing Mattias, et al. Journal of internal medicine 2022 0 (6) 824-836 - Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.
Lefever Stefanie et al. Journal of inherited metabolic disease 2022 - The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.
Vassy Jason L et al. Annals of internal medicine 2017 Jun - Haplotype Study in Argentinean Variegate Porphyria Patients.
Granata Bárbara Xoana, et al. Human heredity 2016 5 (3) 139-143 - Variegate porphyria
From NCATS Genetic and Rare Diseases Information Center
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- Page last reviewed:Feb 1, 2024
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