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Expert Review of Gastroenterology & Hepatology|August 5, 2022
Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiranPaolo Ventura, Eliane Sardh, Nicola Longo, et al.Journal of Proteomics|May 17, 2015
Vitamin D-binding protein as a biomarker of active disease in acute intermittent porphyriaIrantzu Serrano-Mendioroz, Ana Sampedro, María Isabel Mora, et al.Liver International : Official Journal of the International Association for the Study of the Liver|October 30, 2021
Efficacy and safety of givosiran for acute hepatic porphyria: 24-month interim analysis of the randomized phase 3 ENVISION studyPaolo Ventura, Herbert L Bonkovsky, Laurent Gouya, et al.Liver International : Official Journal of the International Association for the Study of the Liver|April 17, 2026
Clinical Characteristics and Outcomes of Acute Intermittent Porphyria: Insights From the European Porphyria RegistryCarl M Baravelli, Sverre Sandberg, Marte H Hammersland, et al.The New England Journal of Medicine|February 7, 2019
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent PorphyriaEliane Sardh, Pauline Harper, Manisha Balwani, et al.The Lancet. Haematology|May 2, 2026
Guidelines for the management of acute porphyria: recommendations from the International Porphyria NetworkYonatan Edel, Penelope E Stein, Hassan Kawtharany, et al.Hepatology (Baltimore, Md.)|September 13, 2019
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent AttacksLaurent Gouya, Paolo Ventura, Manisha Balwani, et al.The New England Journal of Medicine|June 11, 2020
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent PorphyriaManisha Balwani, Eliane Sardh, Paolo Ventura, et al.Genome Medicine|March 17, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patientsHenrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, et al.Pageof 3