Last Posted: Mar 03, 2023
- 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
- ABCB6 polymorphisms are not overly represented in patients with porphyria.
Farrell Colin P, et al. Blood advances 2021 0 (3) 760-766
- Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.
de Villiers J Nico P, et al. Experimental dermatology 2005 0 (1) 50-5
- 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
- The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.
Vassy Jason L et al. Annals of internal medicine 2017 Jun
- Haplotype Study in Argentinean Variegate Porphyria Patients.
Granata Bárbara Xoana, et al. Human heredity 2016 5 (3) 139-143
- Variegate porphyria
From NCATS Genetic and Rare Diseases Information Center
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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
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.