Rare Diseases
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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 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 |