Results 31 to 40 of about 8,276 (254)

Many pitfalls in diagnosis of acute intermittent porphyria: a case report

BMC Research Notes, 2018
Background Acute intermittent porphyria is a rare autosomal dominant disorder caused by a deficiency of the enzyme, hydroxymethylbilane synthase. Recognition of acute neurovisceral attacks can be difficult due to the nonspecific nature of symptoms.
N. L. R. Indika, T. Kesavan, H. W. Dilanthi, K. L. S. P. K. M. Jayasena, N. D. P. D. Chandrasiri, I. N. Jayasinghe, U. M. T. Piumika, D. M. Vidanapathirana, K. D. A. V. Gunarathne, M. Dissanayake, E. Jasinge, W. Kodikara Arachchi, D. Doheny, R. J. Desnick   +13 more
doaj   +1 more source

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

Acute Intermittent Porphyria, Posterior Reversible Encephalopathy Syndrome and Hypertensive Emergency, A Review of The Literature

Egyptian Journal of Critical Care Medicine, 2020
Acute intermittent porphyria is an autosomal dominant inborn error characterized by decreased activity of porphobilinogen deaminase leading to increased levels of haem precursors, namely aminolevulinic acid and porphobilinogen.
Mohamed A. Ahmed, Mahmoud Abdelnabi, Abdallah Almaghraby   +2 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

δ-Aminolevulinic acid cytotoxic effects on human hepatocarcinoma cell lines [PDF]

, 2002
BACKGROUND: Acute Intermittent Porphyria is a genetic disorder of heme metabolism, characterized by increased levels of porphyrin precursors, delta-aminolevulinic acid (ALA) and porphobilinogen (PBG).
Adriana De Siervi, Elba S Vazquez, Carolina Rezaval, María V Rossetti, Alcira M del Batlle, LA Wetterberg, C AM del Batlle, A De Siervi, JA Stein, HL Bonkowsky, EA Wider de Xifra, F Lithner, L Hardell, R Kauppinen, J Onuki, DP Aden, BB Knowles, GJ Darlington, B Bressac, JK Wilson, P Chomczynski, T Douki, A Batlle, S Helson, R Washbrook, F Wagener, K Nath, V Russel, MC Raff, SW Lowe, L Meijer, M Garrett   +31 more
core   +4 more sources

Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report

Anais da Academia Brasileira de Ciências, 2013
Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen.
ANNA R.R. DOS SANTOS, RAFAELA R. DE ALBUQUERQUE, MARIA J.R. DORIQUI, GRACIOMAR C. COSTA, ANA PAULA S.A. DOS SANTOS   +4 more
doaj   +1 more source

19-year-old female with abdominal pain [PDF]

Romanian Journal of Neurology, 2013
Porphyria is a group of at least 8 diseases that differ greatly between them. Common feature of these diseases is the accumulation in the body of porphyrins or porphyrin precursors, due to defects of specific enzymes in the biosynthesis of heme.
Ioan Buraga, Adrian-Florin Dobrescu
doaj   +1 more source

The diagnosis and management of porphyria cutanea tarda (PCT)

South African Family Practice, 2009
The porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway.
Mojakgomo H. Motswaledi
doaj   +1 more source

Acute porphyrias – A neurological perspective

Brain and Behavior, 2021
Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs
Lea M. Gerischer, Franziska Scheibe, Astrid Nümann, Martin Köhnlein, Ulrich Stölzel, Andreas Meisel   +5 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