An update of clinical management of acute intermittent porphyria

por Pischik, Elena, Kauppinen, Raili
Publicado 2015

Pain in acute hepatic porphyrias: Updates on pathophysiology and management

por Kazamel, Mohamed, Pischik, Elena, Desnick, Robert J.
Publicado 2022

Pathogenesis of acute encephalopathy in acute hepatic porphyria

por Pischik, Elena, Baumann, Katrin, Karpenko, Alla, Kauppinen, Raili
Publicado 2023

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

por van Loggerenberg, Warren, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Sheykhkarimli, Dayag, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Di Pierro, Elena, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C.H., Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K., Desnick, Robert J., Garton, Michael, Roth, Frederick P.
Publicado 2023

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

por van Loggerenberg, Warren, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Di Pierro, Elena, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C. H., Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K, Desnick, Robert J., Garton, Michael, Roth, Frederick P.
Publicado 2023