Results 1 to 10 of about 209 (112)
South African Journal of Physiotherapy, 1968 No abstract available.
Geoffrey Dean
doaj +4 more sources
Iron in Porphyrias: Friend or Foe?
Diagnostics, 2022 Iron is a trace element that is important for many vital processes, including oxygen transport, oxidative metabolism, cellular proliferation, and catalytic reactions. Iron supports these functions mainly as part of the heme molecule. Heme synthesis is an
Elena Corradini +2 more
exaly +3 more sources
Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias
Metabolites, 2014 Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
, Bonkovsky Herbert L
exaly +3 more sources
Psychological Aspect and Quality of Life in Porphyrias: A Review
Diagnostics, 2022 The World Health Organization (WHO) describes “health” as a state of physical, mental, and social well-being and not merely the absence of disease or infirmity.
Francesca Granata +2 more
exaly +3 more sources
Acute hepatic porphyrias for the neurologist: current concepts and perspectives [PDF]
Arquivos de Neuro-Psiquiatria, 2021 Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated
Paulo Victor Sgobbi de Souza +5 more
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Acute intermittent porphyria: A case report [PDF]
Vojnosanitetski Pregled, 2021 Introduction. Acute intermittent porphyria is a rare inherited metabolic disorder caused by a decreased level of porphobilinogen deaminase. Subsequent accumulation of by-products in neural elements causes a classic triad of abdominal pain, neurological ...
Vulović Tatjana +3 more
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Prophylactic heme arginate therapy in acute intermittent hepatic porphyria: A case report [PDF]
Vojnosanitetski Pregled, 2022 Introduction. Among the acute hepatic porphyrias, a small percentage of patients, predominantly female, present with recurrent cyclic attacks of acute intermittent porphyria that occur more than three times a year and sometimes at intervals of less than ...
Krnetić Žarko +6 more
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Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral
Acta Médica Portuguesa, 2023 Acute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates.
Luís Brito Avô +10 more
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Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay
Metabolites, 2021 Erythropoietic porphyrias are caused by enzymatic dysfunctions in the heme biosynthetic pathway, resulting in porphyrins accumulation in red blood cells.
Antoine Poli +6 more
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JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2022 SummaryThe porphyrias are clinically variable and genetically heterogeneous, predominantly hereditary metabolic diseases, which are caused by a dysfunction of specific enzymes in heme biosynthesis. Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex metabolic ...
Muschalek, Wiebke +3 more
openaire +3 more sources