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Elena Pischik

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The Application of Clinical Genetics|September 15, 2015
An update of clinical management of acute intermittent porphyriaElena Pischik, Raili Kauppinen
Human Mutation|October 8, 2005
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyriaElena Pischik, Susanna Mehtälä, Raili Kauppinen
Frontiers in Neurology|December 8, 2022
Pain in acute hepatic porphyrias: Updates on pathophysiology and managementMohamed Kazamel, Elena Pischik, Robert J Desnick
Journal of Neurology|June 25, 2008
Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy?Elena Pischik, Valery Kazakov, Raili Kauppinen
Journal of Neurology|February 9, 2023
Pathogenesis of acute encephalopathy in acute hepatic porphyriaElena Pischik, Katrin Baumann, Alla Karpenko, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|May 31, 2024
Long-term complications in acute porphyriaElena Pischik, Mattias Lissing, Nicolas Pallet, et al.
Medicine|January 12, 2005
Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyriaMikael von Und Zu Fraunberg, Elena Pischik, Lina Udd, et al.
American Journal of Human Genetics|September 20, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variationWarren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, et al.
Biorxiv : the Preprint Server for Biology|February 17, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variationWarren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, 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.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
The Application of Clinical Genetics|September 15, 2015
An update of clinical management of acute intermittent porphyriaElena Pischik, Raili Kauppinen
Human Mutation|October 8, 2005
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyriaElena Pischik, Susanna Mehtälä, Raili Kauppinen
Frontiers in Neurology|December 8, 2022
Pain in acute hepatic porphyrias: Updates on pathophysiology and managementMohamed Kazamel, Elena Pischik, Robert J Desnick
Journal of Neurology|June 25, 2008
Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy?Elena Pischik, Valery Kazakov, Raili Kauppinen
Journal of Neurology|February 9, 2023
Pathogenesis of acute encephalopathy in acute hepatic porphyriaElena Pischik, Katrin Baumann, Alla Karpenko, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|May 31, 2024
Long-term complications in acute porphyriaElena Pischik, Mattias Lissing, Nicolas Pallet, et al.
Medicine|January 12, 2005
Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyriaMikael von Und Zu Fraunberg, Elena Pischik, Lina Udd, et al.
American Journal of Human Genetics|September 20, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variationWarren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, et al.
Biorxiv : the Preprint Server for Biology|February 17, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variationWarren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, 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.
Pageof 1