Results 11 to 20 of about 11,700 (180)
Orphanet Journal of Rare Diseases, 2019 Background Porphyria cutanea tarda (PCT) is a skin disorder originating from a deficit of the liver enzyme uroporphyrinogen decarboxylase. PCT may be a risk factor for hepatocellular carcinoma (HCC) and other cancers, but the evidence is unclear.
Carl Michael Baravelli +3 more
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Orphanet Journal of Rare Diseases, 2022 Background Porphyria cutanea tarda (PCT) is a skin disorder caused by a defect in the liver enzyme uroporphyrinogen decarboxylase and is associated with hepatitis C virus infection, high alcohol intake, smoking and iron overload.
Carl Michael Baravelli +3 more
doaj +1 more source
Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients [PDF]
Anais Brasileiros de Dermatologia, 2013 BACKGROUND: Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme.
Fatima Mendonca Jorge Vieira +4 more
doaj +1 more source
Self-efficacy and self-management strategies in acute intermittent porphyria
BMC Health Services Research, 2019 Background Acute intermittent porphyria (AIP) is an inherited metabolic disease with low clinical penetrance caused by mutations in the hydroxymethylbilane (HMBS) gene.
Marte H. Hammersland +3 more
doaj +1 more source
Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study
Orphanet Journal of Rare Diseases, 2020 Background Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the general population.
Carl Michael Baravelli +3 more
doaj +1 more source
Porphyria cutanea tarda and Sjogren's syndrome [PDF]
Anais Brasileiros de Dermatologia, 2014 Porphyria cutanea tarda is prevalent in connective tissue disease, common in systemic lupus erythematosus. However, the co-existence of primary sjogren's syndrome and porphyria cutanea tarda is rare and poses diagnostic and therapeutic challenges.
Su Fang +4 more
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Journal of V. N. Karazin Kharkiv National University: Series Medicine, 2022 Introduction. The relevance of the study of genetic pathologies is due to the growing prevalence in most countries, disability and mortality of persons, high costs of support and treatment.
Valeriia Dorofieieva, Olena Fedota
doaj +1 more source
Porphyria cutanea tarda in a HIV- positive patient [PDF]
Anais Brasileiros de Dermatologia, 2016 : This is a case report about Porphyria cutanea tarda (PCT) and its relationship with the infection caused by the human immunodeficiency virus (HIV). Cutaneous porphyria is an illness caused by enzymatic modification that results in partial deficiency of
Valéria Aparecida Zanela Franzon +3 more
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Mortality in Pedigrees with Acute Intermittent Porphyria
Life, 2022 High mortality rates have been reported in historical cohorts of acute intermittent porphyria (AIP) patients. The mortality associated with (hydroxymethylbilane synthase) HMBS variant heterozygosity is unknown. This study estimates all-cause mortality in
Rochus Neeleman +6 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2012 Background The porphyrias are a heterogeneous group of rare metabolic diseases. The full spectrum of porphyria diagnostics is usually performed by specialized porphyria laboratories or centres.
Tollånes Mette C +7 more
doaj +1 more source