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The Application of Clinical Genetics
|
September 15, 2015
An update of clinical management of acute intermittent porphyria
Elena Pischik, Raili Kauppinen
Human Mutation
|
October 8, 2005
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria
Elena Pischik, Susanna Mehtälä, Raili Kauppinen
Frontiers in Neurology
|
December 8, 2022
Pain in acute hepatic porphyrias: Updates on pathophysiology and management
Mohamed 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 porphyria
Elena 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 porphyria
Elena 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 porphyria
Mikael 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 variation
Warren 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 variation
Warren 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 Network
Yonatan Edel, Penelope E Stein, Hassan Kawtharany, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
The Application of Clinical Genetics
|
September 15, 2015
An update of clinical management of acute intermittent porphyria
Elena Pischik, Raili Kauppinen
Human Mutation
|
October 8, 2005
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria
Elena Pischik, Susanna Mehtälä, Raili Kauppinen
Frontiers in Neurology
|
December 8, 2022
Pain in acute hepatic porphyrias: Updates on pathophysiology and management
Mohamed 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 porphyria
Elena 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 porphyria
Elena 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 porphyria
Mikael 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 variation
Warren 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 variation
Warren 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 Network
Yonatan Edel, Penelope E Stein, Hassan Kawtharany, et al.
Page
of 1