Results 61 to 70 of about 36,453 (301)

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

Disease pharmacokinetic–pharmacodynamic modelling in acute intermittent porphyria to support the development of mRNA‐based therapies

British Journal of Pharmacology, 2020
Acute intermittent porphyria (AIP) results from haplo‐insufficiency of the porphobilinogen deaminase (PBGD) gene encoding the third enzyme in the haem biosynthesis pathway.
Zinnia P. Parra-Guillen, A. Fontanellas, Lei Jiang, Daniel Jericó, P. Martini, Diego Vera-Yunca, M. Hard, L. Guey, I. Trocóniz   +8 more
semanticscholar   +1 more source

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

Cost savings with hemin versus givosiran for the treatment of patients with acute intermittent porphyria (AIP)

Journal of Medical Economics, 2020
Objective Since 1983, hemin has been FDA-approved for acute intermittent porphyria (AIP) attacks. In 2019, FDA approved givosiran for the treatment of adults with acute hepatic porphyria.
S. Massachi, J. Epstein, J. Hurd, H. Bonkovsky   +3 more
semanticscholar   +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

Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria.

Molecular Genetics and Metabolism, 2020
BACKGROUND Acute Intermittent Porphyria (AIP) is a rare inherited autosomal dominant disorder of heme biosynthesis. Porphyria-associated kidney disease occurs in more than 50% of the patients with AIP, and end stage renal disease (ESRD) can be a ...
H. Lazareth, N. Talbi, N. Kamar, C. Levi, B. Moulin, S. Caillard, L. Frimat, J. Chemouny, V. Châtelet, C. Vachey, R. Snanoudj, T. Lefèbvre, A. Karras, L. Gouya, Caroline Schmitt, H. Puy, N. Pallet   +16 more
semanticscholar   +1 more source

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Case Reports in Genetics, 2020
Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates.
G. N. Cerbino, L. Abou Assali, L. S. Varela, L. Tomassi, A. Batlle, V. E. Parera, M. V. Rossetti   +6 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

Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report

The American journal of case reports, 2020
Patient: Male, 19-year-old Final Diagnosis: Acute intermittent porphyria Symptoms: Abdominal pain • dark color urine • weakness Medication: — Clinical Procedure: Kidney transplantation • liver transplantation Specialty: Gastroenterology and Hepatology ...
Gustavo de Sousa Arantes Ferreira, Lívia Cláudio de Oliveira, Luiz Roberto de Sousa Ulisses, A. Watanabe, Isabela Medeiros, H. Cardoso, Inara Creão Costa Alves, Tiago Martins de Almeida, Laura Viana de Lima, R. P. Fontoura, E. R. S. E. Silva, Pollyana Lopes de Araújo   +11 more
semanticscholar   +1 more source

Serum organochlorines and urinary porphyrin pattern in a population highly exposed to hexachlorobenzene [PDF]

, 2002
Background: Porphyria cutanea tarda (PCT) is caused by hexachlorobenzene (HCB) in several species of laboratory mammals, but the human evidence is contradictory.
Jordi Sunyer, Carmen Herrero, Dolores Ozalla, Maria Sala, Núria Ribas-Fitó, Joan Grimalt, Xavier Basagaña, RK Ockner, H Peters, I Dogramaci, I Dogramaci, ES Mazzei, A Morley, JE Burns, MF Currier, JO Grimalt, M Sala, C Herrero, JL Santos, WE Daniell, M Sala, J To-Figueras, E Rossi, GH Elder, D Ozalla, E Rocchi, JE Burns, A Sélden, RE Jones, GM Calvert, D Jung, G García-Vargas, JS Woods, GYH Lyp, PR Sinclair, APJM van Birgelen   +35 more
core   +1 more source