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T1  - EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks 
SN  -  /  
UR  - http://hdl.handle.net/10138/316254 
T3  -  
A1  - Gouya, Laurent; Ventura, Paolo; Balwani, Manisha; Bissell, D. Montgomery; Rees, David C.; Stölzel, Ulrich; Phillips, John D.; Kauppinen, Raili; Langendonk, Janneke G.; Desnick, Robert J.; Deybach, Jean-Charles; Bonkovsky, Herbert L.; Parker, Charles; Naik, Hetanshi; Badminton, Michael; Stein, Penelope E.; Minder, Elisabeth; Windyga, Jerzy; Bruha, Radan; Cappellini, Maria Domenica; Sardh, Eliane; Harper, Pauline; Sandberg, Sverre; Aarsand, Aasne K.; Andersen, Janice; Alegre, Félix; Ivanova, Aneta; Talbi, Neila; Chan, Amy; Querbes, William; Ko, John; Penz, Craig; Liu, Shangbin; Lin, Tim; Simon, Amy; Anderson, Karl E. 
A2  -  
PB  -  
Y1  - 2020 
LA  - eng 
AB  - Abstract 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, prospective data characterizing the disease and current treatment practices in severely affected patients. EXPLORE is a prospective, multinational, natural history study characterizing disease activity and clinical m... 
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KW  - 3121 General medicine, internal medicine and other clinical medicine; Acute intermittent porphyria; heme biosynthesis; neurovisceral attacks; porphobilinogen; δ-aminolevulinic acid; AUDIT; ACUTE INTERMITTENT PORPHYRIA; LIVER-TRANSPLANTATION; DELTA-AMINOLEVULINIC-ACID; SYMPTOMS; HEPATOCELLULAR-CARCINOMA; RECOMMENDATIONS; PORPHOBILINOGEN; UPDATE; CHRONIC KIDNEY-DISEASE 
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