Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Trine, Tangeraas"'
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:
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:
Silje Hogner, Emma Lundman, Janne Strand, Mari Eknes Ytre-Arne, Trine Tangeraas, Asbjørg Stray-Pedersen
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 4, p 67 (2023)
In the Norwegian newborn screening (NBS) program, genetic testing has been implemented as a second or third tier method for the majority of NBS disorders, significantly increasing positive predictive value (PPV). DNA is extracted from dried blood spo
Externí odkaz:
https://doaj.org/article/5e14dcfec2c94ceb913814c68573a21c
Autor:
Trine Tangeraas, Ulf W. Ljungblad, Elma Lutvica, Erle Kristensen, Alex D. Rowe, Anne-Lise Bjørke-Monsen, Terje Rootwelt-Revheim, Ingjerd Sæves, Rolf D. Pettersen
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 1, p 3 (2023)
Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocystei
Externí odkaz:
https://doaj.org/article/87bd0822705b40aab19d97a775a9f4d1
Autor:
Ulf Wike Ljungblad, Morten Lindberg, Erik A. Eklund, Ingjerd Sæves, Carlos Sagredo, Anne-Lise Bjørke-Monsen, Trine Tangeraas
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 4, p 66 (2022)
Background: The sensitivity of newborn screening (NBS) in detecting infants that later develop symptomatic vitamin B12 deficiency is unknown. We evaluated the predictive value using NBS algorithms in detecting infants that later were clinically diagn
Externí odkaz:
https://doaj.org/article/202808ac5ff54ac18e51c226866bf4ec
Autor:
Karolina M. Stepien, Beata Kieć-Wilk, Christina Lampe, Trine Tangeraas, Graziella Cefalo, Nadia Belmatoug, Rita Francisco, Mireia del Toro, Leona Wagner, Anne-Grethe Lauridsen, Sylvia Sestini, Nathalie Weinhold, Andreas Hahn, Chiara Montanari, Valentina Rovelli, Cinzia M. Bellettato, Laura Paneghetti, Corine van Lingen, Maurizio Scarpa
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
Inherited Metabolic Diseases (IMDs) are rare diseases caused by genetic defects in biochemical pathways. Earlier diagnosis and advances in treatment have improved the life expectancy of IMD patients over the last decades, with the majority of patient
Externí odkaz:
https://doaj.org/article/ab9c00a893ff40469cdc81bd147cbd63
Autor:
Janne Strand, Kiran Aftab Gul, Hans Christian Erichsen, Emma Lundman, Mona C. Berge, Anette K. Trømborg, Linda K. Sørgjerd, Mari Ytre-Arne, Silje Hogner, Ruth Halsne, Hege Junita Gaup, Liv T. Osnes, Grete A. B. Kro, Hanne S. Sorte, Lars Mørkrid, Alexander D. Rowe, Trine Tangeraas, Jens V. Jørgensen, Charlotte Alme, Trude E. H. Bjørndalen, Arild E. Rønnestad, Astri M. Lang, Terje Rootwelt, Jochen Buechner, Torstein Øverland, Tore G. Abrahamsen, Rolf D. Pettersen, Asbjørg Stray-Pedersen
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
Severe combined immunodeficiency (SCID) and other T cell lymphopenias can be detected during newborn screening (NBS) by measuring T cell receptor excision circles (TRECs) in dried blood spot (DBS) DNA. Second tier next generation sequencing (NGS) wit
Externí odkaz:
https://doaj.org/article/634d7c285f864c7781322eb1360b861b