Results 21 to 30 of about 2,338 (181)
Development and validation of a method for porphyrins quantification using HPLC-UV in urine
Фармакокинетика и Фармакодинамика, 2022 Porphyrias are the group of orphan diseases, related to pathological disruptions of heme biosynthesis. These diseases are hard to diagnose timely and existing methods lack universality.
D. A. Kildyushkin +2 more
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Kidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications
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
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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
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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
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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
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Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias
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
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Acute intermittent porphyria in a 23-year-old man: case report
Revista Médica de Minas Gerais, 2023 Introduction: Porphyrias are metabolic disorders caused by enzymatic alterations in the biosynthesis of the heme group of heme proteins. The clinical spectrum of porphyrias is associated with the location of the damage in the heme formation chain ...
Tarcísio Silva Borborema +4 more
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Drug Design, Development and Therapy, 2022 Chaudry Nasir Majeed,1 Christopher D Ma,2 Ted Xiao,3 Sean Rudnick,1 Herbert L Bonkovsky1 1Department of Internal Medicine, Section on Gastroenterology and Hepatology, Wake Forest School of Medicine, Winston-Salem, NC, USA; 2Wake Forest University School ...
Majeed CN +4 more
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Dermatologic Clinics, 1987 The porphyrias are a group of disorders of heme metabolism that result from partial defects in the several enzymes that control heme biosynthesis. Accumulation of porphyrins or porphyrin precursors in several different patterns results from these defects and biochemically characterizes each specific syndrome.
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