Results 21 to 30 of about 11,248 (183)
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
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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
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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
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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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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
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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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
Clinical Practice and Cases in Emergency Medicine, 2022 Introduction: Porphyria refers to a group of disorders associated with defects in heme synthesis. They can be associated with severely debilitating features, including abdominal pain, psychiatric symptoms, neurological defects, and cardiovascular ...
Anthony Rios +2 more
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Nonconvulsive status epilepticus secondary to acute porphyria crisis
Epilepsy and Behavior Case Reports, 2019 Both variegate and acute intermittent porphyria can manifest with various neurological symptoms. Although acute symptomatic seizures have been previously described, they are typically tonic–clonic and focal impaired awareness seizures.
Sara Dawit +7 more
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