Results 31 to 40 of about 6,798 (210)

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, Claudio Carmine Guida, Paola Manzini, Chiara Cuoghi, Paolo Ventura   +4 more
doaj   +1 more source

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

Case Report: Lack of Response to Givosiran in a Case of ALAD Porphyria

Frontiers in Genetics, 2022
Introduction: 5-Aminolevulinic acid dehydratase (ALAD) porphyria (ADP) is an autosomal recessive disease characterized by a profound deficiency in ALAD, the second enzyme in the heme biosynthetic pathway, and acute neurovisceral attacks with abdominal ...
Erica Graff, Karl E. Anderson, Cynthia Levy, Cynthia Levy   +3 more
doaj   +1 more source

An overview of the cutaneous porphyrias [PDF]

, 2017
This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature.
A Anstey, A Anstey, A Tewari, A van Tuyll van Serooskerken, B Engin, C Landefeld, C Rimington, D Yoo, E Di Pierro, E Erlandsen, E Minder, E Minder, G Biolcati, G Elder, H Baart de la Faille, H Baart de la Faille, H Lim, H Lim, H Moseley, H Peters, I Magnus, J Bijlmer-Iest, J Bloomer, J Harms, J Langendonk, J Langendonk, J Tu, J Woolf, K Batts, K Tanigawa, L Gouya, L Gouya, L Harber, L Warren, M Boffa, M Corbett, M Ichihashi, M Mathews-Roth, M Poh-Fitzpatrick, M Sivaramakrishnan, P Aguilera, P Collins, P Farr, P Stein, P Vasconcelos, R Dawe, R Dawe, R Dawe, R Fontana, R Hift, R Katugampola, R Katugampola, R Sarkany, R Sarkany, S de Bataille, S Dover, S Dover, S Holme, S Holme, S Holme, S Schäd, S Wahlin, S Wahlin, S Wahlin, S Whatley, S Whatley, S Yamamoto, S Zaynoun, T Karamfilov, V Weimar, W Burke, Y Tokura   +71 more
core   +3 more sources

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
core   +1 more source

Acute Intermittent Porphyria: Flaccid Quadriplegia and Encephalopathy due to Posterior Reversible Encephalopathy Syndrome (PRES) [PDF]

Liaquat National Journal of Primary Care
A deficiency of the enzyme HMB Hydroxymethylbilane synthase function, also known as porphobilinogen deaminase, leads to the emergence of acute intermittent porphyria (AIP). AIP is an uncommon form of hepatic porphyria inherited in an autosomal dominant
Saba Zaidi, Ayesha Abdul Samad, Ayesha Jaka   +2 more
doaj   +1 more source

Acute hepatic porphyria and hepatocellular carcinoma [PDF]

British Journal of Cancer, 1988
In this study we examined the case histories of 163 living and 82 deceased adult Finnish patients with acute hepatic porphyria. There were 184 patients with acute intermittent porphyria and 61 patients with variegate porphyria. Among the 124 of the 163 living patients, who were traced 1984-1985, no hepatocellular carcinoma was found.
R, Kauppinen, P, Mustajoki
openaire   +2 more sources

High Prevalence of Insulin Resistance in Asymptomatic Patients with Acute Intermittent Porphyria and Liver-Targeted Insulin as a Novel Therapeutic Approach

Biomedicines, 2021
Acute porphyria attacks are associated with the strong up-regulation of hepatic heme synthesis and over-production of neurotoxic heme precursors. First-line therapy is based on carbohydrate loading.
Isabel Solares, Laura Izquierdo-Sánchez, Montserrat Morales-Conejo, Daniel Jericó, Francisco Javier Castelbón, Karol Marcela Córdoba, Ana Sampedro, Carlos Lumbreras, María Jesús Moreno-Aliaga, Rafael Enríquez de Salamanca, Pedro Berraondo, Antonio Fontanellas   +11 more
doaj   +1 more source

Acute hepatic porphyrias

Porto Biomedical Journal
Abstract Introduction: Porphyrias are rare genetic disorders caused by heme biosynthesis pathway enzyme mutations, leading to porphyrin precursors build up in various tissues and diverse symptoms. This review centers on acute hepatic porphyrias (AHP).
Inês Marques, Pedro Marcos
openaire   +3 more sources

Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study [PDF]

, 2016
Background: The acute hepatic porphyrias (AHPs) are rare inborn errors of heme biosynthesis, characterized clinically by life-threatening acute neurovisceral attacks.
Balwani, M, Desnick, RJ, Naik, H, Sanderson, SC, Stoecker, M   +4 more
core   +1 more source