Results 21 to 30 of about 22,097 (228)
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
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
doaj +1 more source
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
Spotlight on zebrafish:translational impact [PDF]
, 2014 In recent years, the zebrafish has emerged as an increasingly prominent model in biomedical research. To showcase the translational impact of the model across multiple disease areas, Disease Models & Mechanisms has compiled a Special Issue that includes ...
Amatruda, James F +3 more
core +2 more sources
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
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
Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria. [PDF]
, 2019 BackgroundErythropoietic protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare photodermatoses presenting with severe phototoxicity. Although anecdotally, providers who treat EPP patients acknowledge their life-altering effects, tools that ...
Anderson, Karl E +10 more
core +1 more source
Bioanalytical studies of porphyric disorders using HPLC with fluorescence detection [PDF]
, 2014 We describe here the development, validation, quantification and application of a method for determination of heme porphyrin precursors in the urine of porphyric patients.
Alves, Atecla Nunciata Lopes +3 more
core +2 more sources
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
doaj +1 more source
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
doaj +1 more source