EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks

Gouya, Laurent; Ventura, Paolo; Balwani, Manisha; Montgomery Bissell, D.; C. Rees, David; Stölzel, Ulrich; D. Phillips, John; Kauppinen, Raili; G. Langendonk, Janneke; J. Desnick, Robert; Deybach, Jean‐Charles; L. Bonkovsky, Herbert; Parker, Charles; Naik, Hetanshi; N. Badminton, Michael; E. Stein, Penelope; I. Minder, Elisabeth; Windyga, Jerzy; Brůha, Radan; Domenica Cappellini, Maria; Sardh, Eliane; Harper, Pauline; Sandberg, Sverre; K. Aarsand, Aasne; Andersen, Janice; Alegre, Félix; Ivanova, Aneta; Talbi, Neila; Chan, Amy; Querbes, William; J. Ko, John; Penz, Craig; Liu, Shangbin; Lin, Tim; Simon, Amy; E. Anderson, Karl

doi:10.1002/hep.30936

Public

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks

Published in Hepatology • Sep 12, 2019

Authors:

Laurent Gouya

Paolo Ventura

Manisha Balwani

Abstract

BACKGROUND AND AIMS: Acute hepatic porphyria comprises a group of rare genetic diseases caused by mutations in genes involved in heme biosynthesis. Patients can experience acute neurovisceral attacks, debilitating chronic symptoms, and long-term complications. There is a lack of multinational, prosp...

Subject

Medicine

Porphyria

Prospective cohort study

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