Results 41 to 50 of about 6,798 (210)

Acute hepatic porphyrias for the neurologist: current concepts and perspectives [PDF]

Arquivos de Neuro-Psiquiatria, 2021
Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated
Paulo Victor Sgobbi de Souza, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Eduardo Augusto Gonçalves, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira   +5 more
doaj   +1 more source

Interpreting iron studies [PDF]

, 2017
No abstract ...
Kelly, Alison U., McSorley, Stephen T., Patel, Prinesh, Talwar, Dinesh   +3 more
core   +1 more source

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

A 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients is Associated With a Low Risk of Complications

Rambam Maimonides Medical Journal, 2023
Objective: In patients with acute hepatic porphyria (AHP), prolonged fasting is a known trigger of AHP attacks. Despite this, some Jewish AHP patients—mainly hereditary coproporphyria (HCP) and variegate porphyria (VP) patients—fast for 25 consecutive ...
Yonatan Edel, Rivka Mamet, Iftach Sagy, Igor Snast, Ran Kaftory, Tomer Mimouni, Assi Levi   +6 more
doaj   +1 more source

Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients

Molecular Genetics & Genomic Medicine, 2021
Background Acute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerative changes.
María del Carmen Martinez, Gabriela Nora Cerbino, Bárbara Xoana Granata, Alcira Batlle, Victoria Estela Parera, María Victoria Rossetti   +5 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 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

Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

Molecular Genetics and Metabolism Reports
Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment
Isabelle Redonnet-Vernhet, Patrick Mercié, Louis Lebreton, Jean-Marc Blouin, Didier Bronnimann, Samir Mesli, Claire Guibet, Emmanuel Ribeiro, Noémie Gensous, Pierre Duffau, Laurent Gouya, Emmanuel Richard   +11 more
doaj   +1 more source

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

Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification

Molecular Therapy: Nucleic Acids, 2015
The acute hepatic porphyrias are caused by inherited enzymatic deficiencies in the heme biosynthesis pathway. Induction of the first enzyme 5-aminolevulinic acid synthase 1 (ALAS1) by triggers such as fasting or drug exposure can lead to accumulation of ...
Amy Chan, Abigail Liebow, Makiko Yasuda, Lin Gan, Tim Racie, Martin Maier, Satya Kuchimanchi, Don Foster, Stuart Milstein, Klaus Charisse, Alfica Sehgal, Muthiah Manoharan, Rachel Meyers, Kevin Fitzgerald, Amy Simon, Robert J Desnick, William Querbes   +16 more
doaj   +1 more source