Acute Intermittent Porphyria
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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 - Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.
Lefever Stefanie et al. Journal of inherited metabolic disease 2022 - Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients.
Buendía-Martínez Juan et al. Orphanet journal of rare diseases 2021 16(1) 106 - CLINGEN Actionability Report for Acute Intermittent Porphyria - HMBS
ClinGen Actionability Working Group - A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease.
Tchernitchko Dimitri, et al. Journal of the American Society of Nephrology : JASN 2016 12 - A novel mutation, IVS2-2AgG, associated with acute intermittent porphyria in a Chinese family.
Jiao Huang, et al. JPMA. The Journal of the Pakistan Medical Association 2015 8 (8) 898-900 - Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
Gonzaga Ana Denise Gomes, et al. Annals of human genetics 2015 5 (3) 162-72 - Acute intermittent porphyria
From NCATS Genetic and Rare Diseases Information Center - HMBS mutations in Chinese patients with acute intermittent porphyria.
Yang C-C, et al. Annals of human genetics 2008 9 (Pt 5) 683-6 - Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria.
Fraunberg Mikael von Und Zu, et al. Medicine 2005 1 (1) 35-47 - The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.
Andersson C, et al. Scandinavian journal of clinical and laboratory investigation 2000 11 (7) 643-8
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 14, 2024
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