Acute Intermittent Porphyria
Last Posted: Mar 05, 2021
- 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
- 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 Jun 1-9
- 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.
von und zu Fraunberg Mikael, 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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