Acute Intermittent Porphyria
Last Posted: Jun 05, 2019
- 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
- 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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Quick Links to Other Resources
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.