Porphyria Cutanea Tarda
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Last Posted: Mar 15, 2023
- Ledipasvir/Sofosbuvir Is Effective as Sole Treatment of Porphyria Cutanea Tarda with Chronic Hepatitis C.
Bonkovsky Herbert L, et al. Digestive diseases and sciences 2023 0 1-9 - Role of ABCB1 and glutathione S-transferase gene variants in the association of porphyria cutanea tarda and human immunodeficiency virus infection.
Pagnotta Priscila Ayelén, et al. Biomedical reports 2020 0 (2) 22 - Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.
Lefever Stefanie et al. Journal of inherited metabolic disease 2022 - CLINGEN Actionability Report for Hemochromatosis, Type 1-HFE
ClinGen Actionability Working Group - SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry.
Succi Isabella Brasil, et al. Annals of human genetics 2018 5 - The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda.
Farrell Colin P, et al. PloS one 0 0 (9) e0163322 - Cascade testing of primary care blood samples with hyperferritinaemia identifies subjects with iron overload and porphyria cutanea tarda.
Baddams Emma L et al. Ann. Clin. Biochem. 2014 Jul 51(Pt 4) 499-502 - Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients.
Vieira Fatima Mendonça Jorge, et al. Anais brasileiros de dermatologia 0 0 (4) 530-40 - Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda.
Tchernitchko D, et al. The British journal of dermatology 2012 2 (2) 425-9 - Porphyria cutanea tarda
From NCATS Genetic and Rare Diseases Information Center - Hemojuvelin and hepcidin gene mutations in patients with porphyria cutanea tarda from Southern France.
Du Thanh Aurélie, et al. Acta dermato-venereologica 2011 1 (1) 66-7 - CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda.
Wickliffe Jeffrey K, et al. Molecular medicine (Cambridge, Mass.) 0 0 (3-4) 241-7 - Significance of H63D homozygosity in a Basque population with hemochromatosis.
Castiella Agustin, et al. Journal of gastroenterology and hepatology 2010 7 (7) 1295-8 - Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda.
Fontanellas Antonio, et al. Experimental dermatology 2010 8 (8) e326-8 - Associations among behavior-related susceptibility factors in porphyria cutanea tarda.
Jalil Sajid, et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2010 3 (3) 297-302, 302.e1 - Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.
Badenas C, et al. Clinical genetics 2009 4 (4) 346-53 - [Porphyria cutanea tarda. An analysis of HFE gene mutations, hepatitis viruses, alcohol intake, and other risk factors in 54 patients from Guipúzcoa, Basque Country, Spain].
Castiella A, et al. Revista española de enfermedades digestivas : organo oficial de la Sociedad Española de Patología Digestiva 2008 12 (12) 774-8 - Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study.
Cribier Bernard, et al. Dermatology (Basel, Switzerland) 2009 0 (1) 15-21 - Down-regulation of hepcidin in porphyria cutanea tarda.
Ajioka Richard S, et al. Blood 2008 12 (12) 4723-8 - High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic.
Kratka K, et al. The British journal of dermatology 2008 9 (3) 585-90
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
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- Graves Disease
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- Microcephaly
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- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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.
- Page last reviewed:Feb 1, 2024
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