Results 11 to 20 of about 3,279 (202)
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.
Herbert L Bonkovsky
exaly +4 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
doaj +2 more sources
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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Iron in Porphyrias: Friend or Foe? [PDF]
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 Buzzetti +2 more
doaj +2 more sources
South African Journal of Physiotherapy, 1968 No abstract available.
Geoffrey Dean
doaj +4 more sources
Kidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications [PDF]
Diagnostics, 2021 Porphyrias are a group of rare disorders originating from an enzyme dysfunction in the pathway of heme biosynthesis. Depending on the specific enzyme involved, porphyrias manifest under drastically different clinical pictures.
Andrea Ricci +4 more
doaj +2 more sources
Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias
Case Reports in Hematology, 2013 The porphyrias are a group of disorders characterized by an enzyme deficiency in the heme biosynthetic pathway. These can be classified into either erythropoietic or hepatic forms depending on the site of the major enzyme deficiency.
Henry Trier +2 more
doaj +2 more sources
Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias [PDF]
Diagnostics, 2021 Porphyrias are a group of congenital and acquired diseases caused by an enzymatic impairment in the biosynthesis of heme. Depending on the specific enzyme involved, different types of porphyrias (i.e., chronic vs. acute, cutaneous vs.
Andrea Ricci +3 more
doaj +2 more sources
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
doaj +1 more source
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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