Results 31 to 40 of about 11,286 (212)

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
doaj   +1 more source

Acute Intermittent Porphyria: Pathophysiology and Treatment [PDF]

, 1984
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/90337/1/j.1875-9114.1984.tb03340.x ...
Anderson, Badawy, Battersby, Berman, Bickers, Bonkowsky, Bonkowsky, Bonkowsky, Bonkowsky, Bonkowsky, Bottomley, Cavanagh, Cowger, Dhar, Dhar, Disler, Doss, Douer, Eales, Eales, Elsman, Eyck, Felsher, Giger, Granick, Granick, Hanstein, Hellman, Heubel, Kappas, Kappas, Lamon, Lamon, Liem, Ludwig, Magnussen, Magnussen, Massey, Matteis, Mauzerall, McColl, McColl, Menawat, Moore, Moore, Morris, Muller-Eberhard, Muller-Eberhard, Muller-Eberhard, Mustajoki, Nielsen, Nyman, Ohnhaus, Parikh, Pass, Perlroth, Peterson, Reynolds, Ridley, Rifkind, Rizk, Rose, Snyder, Stein, Strand, Sweeny, Tait, Treece, Tschudy, Tschudy, Tschudy, Verneuil, Watson, Watson, Watson, Welland, Wetterberg   +76 more
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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, Michele De Canio, Rosa Mercadante, Maria Savino, Francesca Granata, Dario Tavazzi, Anna Maria Nicolli, Andrea Trevisan, Stefano Marchini, Silvia Fustinoni   +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, Giada Di Betto, Elisa Bergamini, Elena Buzzetti, Elena Corradini, Paolo Ventura   +5 more
doaj   +1 more source

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, Vikram P. Krishnasamy, Pashtoon Murtaza Kasi   +2 more
doaj   +1 more source

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, Leticia Utsch Araujo, Manoel Bruno Pereira Lima, Lucas Muller Fonseca, Juliana Mattos Tavares   +4 more
doaj   +1 more source

Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria [PDF]

, 2017
Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional ...
Baker, Tania, Bergonia, Hector A., Ducamp, Sarah, Gouya, Laurent, Kafina, Martin D., Kannengiesser, Caroline, Kardon, Julia R., Karim, Zoubida, Manceau, Hana, Nicolas, Gaël, Paw, Barry H., Phillips, John D., Puy, Hervé, van der Vorm, Lisa N., Yien, Yvette Y.   +14 more
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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, Assunção, Nilson Antonio, Bechara, Etelvino José Henriques, Cypriani, Michele Gotelipe de Souza Corrêa   +3 more
core   +2 more sources

Spotlight on Givosiran as a Treatment Option for Adults with Acute Hepatic Porphyria: Design, Development, and Place in Therapy

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, Ma CD, Xiao T, Rudnick S, Bonkovsky HL   +4 more
doaj  

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, Elena Di Pierro, Matteo Marcacci, Paolo Ventura   +3 more
doaj   +1 more source