Results 81 to 90 of about 1,644 (213)

Benefits of prophylactic heme therapy in severe acute intermittent porphyria

Molecular Genetics and Metabolism Reports, 2019
Acute intermittent porphyria (AIP), an autosomal dominant inborn error of metabolism, is the most common and severe form of the acute porphyrias. Attacks of severe abdominal pain, often with hypertension, tachycardia, are cardinal features of AIP, often ...
Pradeep Yarra, Denise Faust, Mary Bennett, Sean Rudnick, Herbert L. Bonkovsky   +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

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Variegate porphyria : molecular aspects of variegate porphyria in South Africa and their biochemical and clinical consequences

, 2000
Bibliography: p. 215-241.Variegate porphyria (VP) is the clinical disorder associated with a deficiency of the haemsynthesising enzyme protoporphyrinogen oxidase (PPO). VP is one of the commonest monogenic inherited disorders in South Africa.
Hift, R J
core  

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword

, 2018
International audiencePorphyrias are inherited diseases with low penetrance affecting the heme biosynthesis pathway. Acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP) together constitute the acute hepatic ...
Deybach, Jean-Charles, Gouya, L, Puy, H, Peoc'H, Katell, Gouya, Laurent, Wahlin, S,, Wahlin, Staffan, Karim, Z, Manceau, H, Deybach, J-C, Manceau, Hana, Puy, Hervé, Karim, Zoubida, Peoc'h, K   +13 more
core   +1 more source

Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation

Molecular Genetics and Metabolism Reports
Acute hepatic porphyrias (AHPs) are a family of rare, autosomal, dominantly inherited conditions characterized by abnormalities in the production of heme.
Claudio Carmine Guida, Maria Nardella, Aurora del Mar YS Perez, Maria Savino, Gaetano Ferrara, Francesco Napolitano, Annalisa Crisetti, Francesco Aucella, Filippo Aucella   +8 more
doaj   +1 more source

Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria

Metabolites
Background: Acute hepatic porphyrias (AHPs) represent inherited metabolic disorders of the heme biosynthesis pathway, leading to neurological and systemic impairment. Despite the presence of well-recognized chronic symptoms and signs, acute neurological,
Bruno de Mattos Lombardi Badia, Paulo de Lima Serrano, João Paulo Barile, Daniel Delgado Seneor, Patrícia Marques Mendes, Renan Brandão Rambaldi Cavalheiro, Kaliny Oliveira Peixoto, Igor Braga Farias, Roberta Ismael Lacerda Machado, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Paulo Sgobbi   +11 more
doaj   +1 more source

A randomized, placebo-controlled study of givosiran in patients with acute hepatic porphyrias (ENVISION): Final (36-month) analysis of the Taiwan Cohort

Journal of the Formosan Medical Association
Background/purpose: Acute hepatic porphyrias (AHP) are rare genetic disorders associated with acute neurovisceral attacks and chronic symptoms.
Ming-Jen Lee, Hung-Chou Kuo, Lin-Na Chou, Marianne T. Sweetser, Jiaan-Der Wang   +4 more
doaj   +1 more source

From chemistry to genomics: A concise history of the porphyrias

We describe developments in understanding of the porphyrias associated with each step in the haem biosynthesis pathway and the role of individuals whose contributions led to major advances over the past 150 years.
Deybach, Jean‐Charles, Harper, Pauline, Badminton, Michael N., Anderson, Karl E., Elder, George H., Sandberg, Sverre   +5 more
core   +1 more source