Results 21 to 30 of about 3,279 (202)
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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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
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Porphyria or not porphyria – that is the question… [PDF]
BMJ Case Reports, 2010 A 55-year-old man presented with a 2-month history of blisters affecting his hands. His history was significant for treated multiple myeloma with residual monoclonal gammopathy of undetermined significance, and end stage renal disease on automated peritoneal dialysis.
Smyth, A. +3 more
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Management of acute and cutaneous porphyrias
, 2002 The porphyrias comprise a group of disorders of the haem biosynthesis pathway that can present with acute neurovisceral symptoms, skin lesions or both.
Badminton, Michael Norman +1 more
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Porphyrias associated with malignant tumors: Results of treatment with ionizing irradiation [PDF]
, 2001 Background: Porphyrin metabolism disorders, known as porphyria, represent inherited or acquired diseases. The development of porphyria due to light sensibility occurs especially with exposure to wavelengths in the range of 300-700 nm.
Panzer, M. +9 more
core +1 more source
Treatment of the Porphyrias: Mechanisms of Action [PDF]
, 1981 The porphyrias are diseases that result from inherited or acquired abnormalities of porphyrin-heme synthesis in the liver and the bone marrow. Only the hepatic porphyrias are known to be aggravated by exposure to a variety of exogenous drugs and ...
Bickers, David R
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Implanted Progestin Causing Pain and Psychiatric Disturbances in Porphyria Attack: A Case Report
Clinical Practice and Cases in Emergency Medicine, 2023 Introduction: Acute hepatic porphyrias (AHP) are a rare group of inherited disorders caused by abnormal functioning of the heme synthesis pathway. Patients often present with diffuse abdominal pain, neurologic dysfunction, and hyponatremia.
Ryan K. Misek, Massimo F. Riitano
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Laboratory Diagnosis of Porphyria
Diagnostics, 2021 Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretion of
Elena Di Pierro +9 more
doaj +1 more source
Iron Metabolism in the Disorders of Heme Biosynthesis
Metabolites, 2022 Given its remarkable property to easily switch between different oxidative states, iron is essential in countless cellular functions which involve redox reactions. At the same time, uncontrolled interactions between iron and its surrounding milieu may be
Andrea Ricci +5 more
doaj +1 more source
, 2010 The porphyrias are metabolic disorders characterized by overproduction of haem precursors, principally in the liver and bone marrow. Most porphyrias are inborn errors that affect enzymatic steps in a tightly regulated biosynthetic pathway for haem ...
T.M. Cox
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