Acute Intermittent Porphyria
What's New
Last Posted: Mar 04, 2023
- Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Yibao, et al. Frontiers in pharmacology 2019 0 1018 - 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 - High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.
Barreda-Sánchez María, et al. Orphanet journal of rare diseases 2019 0 (1) 59 - ABCB6 polymorphisms are not overly represented in patients with porphyria.
Farrell Colin P, et al. Blood advances 2021 0 (3) 760-766 - Profiling of Serum Metabolites of Acute Intermittent Porphyria and Asymptomatic HMBS Mutation Carriers.
Lin Chia-Ni, et al. Cells 2021 0 (10) - Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.
To-Figueras Jordi, et al. Journal of inherited metabolic disease 2021 0 (4) 961-971 - Heterogeneous molecular behavior in liver tumors (HCC and CCA) of two patients with acute intermittent porphyria.
Haverkamp Thomas, et al. Journal of cancer research and clinical oncology 2022 0 - Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center.
Yang Jing, et al. BioMed research international 2016 0 3927635 - Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria.
Lin Chia-Ni, et al. Clinica chimica acta; international journal of clinical chemistry 2018 0 1-6 - 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
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 03, 2024
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