Results 31 to 40 of about 31,642 (216)
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
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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
doaj +1 more source
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
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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
doaj +2 more sources
Management of hyponatremia associated with acute porphyria—proposal for the use of tolvaptan
Annals of Translational Medicine, 2020 Hyponatremia is a common feature during the neurovisceral acute attacks which characterize hepatic porphyrias, as well as a sign of its severity. Therapeutic options for first-line acute attacks are intravenous administration of glucose and/or exogenous ...
I. Solares +6 more
semanticscholar +1 more source
Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil) [PDF]
Anais Brasileiros de Dermatologia, 2018 : Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases.
Isabella Brasil Succi +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
Nutrients and Porphyria: An Intriguing Crosstalk
International Journal of Molecular Sciences, 2020 Porphyria refers to a group of fascinating diseases from a metabolic and nutritional standpoint as it provides an example of how metabolic manipulation can be used for therapeutic purposes.
E. Di Pierro, F. Granata
semanticscholar +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
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19-year-old female with abdominal pain [PDF]
Romanian Journal of Neurology, 2013 Porphyria is a group of at least 8 diseases that differ greatly between them. Common feature of these diseases is the accumulation in the body of porphyrins or porphyrin precursors, due to defects of specific enzymes in the biosynthesis of heme.
Ioan Buraga, Adrian-Florin Dobrescu
doaj +1 more source