Results 31 to 40 of about 1,411 (134)

Spotlight on Givosiran as a Treatment Option for Adults with Acute Hepatic Porphyria: Design, Development, and Place in Therapy

Drug Design, Development and Therapy, 2022
Chaudry Nasir Majeed,1 Christopher D Ma,2 Ted Xiao,3 Sean Rudnick,1 Herbert L Bonkovsky1 1Department of Internal Medicine, Section on Gastroenterology and Hepatology, Wake Forest School of Medicine, Winston-Salem, NC, USA; 2Wake Forest University School ...
Majeed CN, Ma CD, Xiao T, Rudnick S, Bonkovsky HL   +4 more
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Prophylactic heme arginate therapy in acute intermittent hepatic porphyria: A case report [PDF]

Vojnosanitetski Pregled, 2022
Introduction. Among the acute hepatic porphyrias, a small percentage of patients, predominantly female, present with recurrent cyclic attacks of acute intermittent porphyria that occur more than three times a year and sometimes at intervals of less than ...
Krnetić Žarko, Pešić Tatjana, Savić Željka, Jocić Tatiana, Latinović-Bošnjak Olgica, Vračarić Vladimir, Damjanov Dimitrije   +6 more
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Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias

Case Reports in Hematology, 2013
The porphyrias are a group of disorders characterized by an enzyme deficiency in the heme biosynthetic pathway. These can be classified into either erythropoietic or hepatic forms depending on the site of the major enzyme deficiency.
Henry Trier, Vikram P. Krishnasamy, Pashtoon Murtaza Kasi   +2 more
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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
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High penetrance, recurrent attacks and thrombus formation in a family with hereditary coproporphyria

JIMD Reports, 2022
Hereditary coproporphyria (HCP) is the rarest of the autosomal dominant acute porphyrias with an estimated incidence of 0.02 per 10 million per year.
Cindy Towns, Sobana Balakrishnan, Chris Florkowski, Andrew Davies, Elaine Barrington‐Ward   +4 more
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Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives

Orphanet Journal of Rare Diseases, 2022
Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis.
Matteo Marcacci, Andrea Ricci, Chiara Cuoghi, Stefano Marchini, Antonello Pietrangelo, Paolo Ventura   +5 more
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Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy

Frontiers in Genetics, 2022
Background and aims: Porphyrias constitute a group of rare genetic diseases due to various, mostly autosomal dominant mutations, causing enzymatic deficiency in heme biosynthesis.
Edwige Collaud, Luis Wittwer, Luis Wittwer, Anna-Elisabeth Minder, Jean-Marie Annoni, Elisabeth I. Minder, Joelle N. Chabwine, Joelle N. Chabwine   +7 more
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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
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Brazilian registry of patients with porphyria: REBRAPPO study

Orphanet Journal of Rare Diseases, 2023
Background Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of disease with disabling chronic ...
Paulo Victor Sgobbi Souza, Gliciane Afonso, Wladimir Bocca Vieira de Rezende Pinto, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Ana Carolina dos Santos Jorge, Roberta Ismael Lacerda Machado, Icaro França Navarro Pinto, Glenda Barbosa Barros, Helvia Bertoldo de Oliveira, Samia Rogatis Calil, Cibele Franz, Acary Souza Bulle Oliveira   +13 more
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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
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