Zobrazeno 1 - 10
of 252
pro vyhledávání: '"Tangeraas, A."'
Autor:
Erle Kristensen, Linda Mathisen, Siren Berland, Claus Klingenberg, Eylert Brodtkorb, Magnhild Rasmussen, Trine Tangeraas, Yngve T. Bliksrud, Shamima Rahman, Laurence Albert Bindoff, Omar Hikmat
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1819-1830 (2024)
Abstract Objective To investigate the prevalence and natural history of POLG disease in the Norwegian population. Methods A national, population‐based, retrospective study using demographic, clinical, and genetic data of patients with genetically c
Externí odkaz:
https://doaj.org/article/4a0c133097554238b0fa3d89ae495a19
Autor:
Sufin Yap, Delphine Lamireau, Francois Feillet, Angeles Ruiz Gomez, James Davison, Trine Tangeraas, Vincenzo Giordano
Publikováno v:
Drugs in R&D, Vol 24, Iss 1, Pp 69-80 (2024)
Abstract Background and Objective Methylmalonic aciduria (MMA) and propionic aciduria (PA) are organic acidurias characterised by the accumulation of toxic metabolites and hyperammonaemia related to secondary N-acetylglutamate deficiency. Carglumic a
Externí odkaz:
https://doaj.org/article/8792f04721544dcb98d278fef88f370c
Autor:
Trine Tangeraas, Erle Kristensen, Lars Mørkrid, Elisabeth Elind, Yngve Thomas Bliksrud, Lars Eide
Publikováno v:
JIMD Reports, Vol 64, Iss 5, Pp 360-366 (2023)
Abstract The branched‐chain amino acids (BCAA) leucine, valine, and isoleucine provide precursors for monomethyl branched‐chain fatty acids (BCFA). Established reference ranges for BCFAs are lacking. In maple syrup urine disease (MSUD), a rare in
Externí odkaz:
https://doaj.org/article/e6789926733e432db18bbd9524690732
Autor:
Vibeke Arntsen, Ahmed Jamali, Alma Sikiric, Erle Kristensen, Trine Tangeraas, Guste Kupliauskiene, Sigurbjörg Stefansdottir, Laurence A. Bindoff, Trond Sand, Eylert Brodtkorb
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
PurposePyridoxine-dependent epilepsy due to ALDH7A1 variants (PDE-ALDH7A1) is a rare disorder, presenting typically with severe neonatal, epileptic encephalopathy. Early diagnosis is imperative to prevent uncontrolled seizures. We have explored the r
Externí odkaz:
https://doaj.org/article/8b7fc35a330d49a5adc8ef20706fa65d
Autor:
Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad
Publikováno v:
In Molecular Genetics and Metabolism July 2023 139(3)
Autor:
Jamali, Ahmed, Kristensen, Erle, Tangeraas, Trine, Arntsen, Vibeke, Sikiric, Alma, Kupliauskiene, Guste, Myren-Svelstad, Sverre, Berland, Siren, Sejersted, Yngve, Gerstner, Thorsten, Hassel, Bjørnar, Bindoff, Laurence A., Brodtkorb, Eylert
Publikováno v:
In Epilepsy Research February 2023 190
Akademický článek
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Autor:
Kristin Ørstavik, Kjell Arne Arntzen, Per Mathisen, Paul Hoff Backe, Trine Tangeraas, Magnhild Rasmussen, Erle Kristensen, Marijke Van Ghelue, Christoffer Jonsrud, Yngve Thomas Bliksrud
Publikováno v:
JIMD Reports, Vol 63, Iss 3, Pp 193-198 (2022)
Abstract Mitochondrial trifunctional protein (MTP) deficiency is an ultrarare hereditary recessive disorder causing a broad spectrum of phenotypes with lethal infantile cardiomyopathy at the most severe end. Attenuated forms with polyneuropathy have
Externí odkaz:
https://doaj.org/article/69e9d0a6cc444bf09dbe51d2f46778ba
Autor:
Ljungblad, Ulf Wike, Astrup, Henriette, Mørkrid, Lars, Hager, Helle Borgstrøm, Lindberg, Morten, Eklund, Erik A., Bjørke-Monsen, Anne-Lise, Rootwelt, Terje, Tangeraas, Trine
Publikováno v:
In Pediatric Neurology June 2022 131:4-12