Results 31 to 40 of about 6,328 (193)

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   +3 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

Anesthesia for hemicolectomy in a known porphyric with cecal malignancy

Saudi Journal of Anaesthesia, 2015
Intraoperative management of a known acute intermittent porphyria patient is a challenge requiring awareness of factors, which trigger an acute crisis, clinical features of a porphyric attack, knowledge of safe pharmacologic intervention, and ...
B K Naithani, Shagun Bhatia Shah, A K Bhargava, Vivek Batra   +3 more
doaj   +1 more source

Safe use of perampanel in a carrier of variegate porphyria [PDF]

, 2016
Objectives. Treatment of chronic epilepsy in acute porphyrias may be difficult because many antiepileptic drugs can cause activation of clinically-latent conditions. Methods.
Balestrini, S, Hart, Y, Sisodiya, SM, Thunell, S   +3 more
core   +1 more source

Acute intermittent porphyria in the puerperium [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2010
Introduction. Acute intermittent porphyria emerges as a result of partial defect of porphobilinogen deaminase and is manifested by repeated episodes of somatic, psychiatric and neurological disorders.
Sparić Radmila, Berisavac Ivana, Arsenijević Ljubica, Berisavac Milica, Dokić Milan, Savić Olivera, Ilić-Mostić Tatjana, Kadija Saša   +7 more
doaj   +1 more source

Delivering efficient liver-directed AAV-mediated gene therapy. [PDF]

, 2017
Adeno-associated virus vectors (AAV) have become the leading technology for liver-directed gene therapy. After the pioneering trials using AAV2 and AAV8 to treat haemophilia B, D’Avola et al.
Alexander, IE, Baruteau, J, Gissen, P, Waddington, SN   +3 more
core   +1 more source