Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Rina Lilje"'
Autor:
Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, Jens Jørgensen, Erle Kristensen, Gunnþórunn Gunnarsdottir, Eirik Vangsøy Hansen, Janne Strand, Emma Lundman, Sacha Ferdinandusse, Cathrin Lytomt Salvador, Berit Woldseth, Yngve T. Bliksrud, Carlos Sagredo, Øyvind E. Olsen, Mona C. Berge, Anette Kjoshagen Trømborg, Anders Ziegler, Jin Hui Zhang, Linda Karlsen Sørgjerd, Mari Ytre-Arne, Silje Hogner, Siv M. Løvoll, Mette R. Kløvstad Olavsen, Dionne Navarrete, Hege J. Gaup, Rina Lilje, Rolf H. Zetterström, Asbjørg Stray-Pedersen, Terje Rootwelt, Piero Rinaldo, Alexander D. Rowe, Rolf D. Pettersen
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 3, p 51 (2020)
In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs). Between 1 Marc
Externí odkaz:
https://doaj.org/article/ee83f4da7b56404183a2012eb12ea9e8
Autor:
Coughlin, Curtis R., Tseng, Laura A., Abdenur, Jose E., Ashmore, Catherine, Boemer, François, Bok, Levinus A., Boyer, Monica, Buhas, Daniela, Clayton, Peter T., Das, Anibh, Dekker, Hanka, Evangeliou, Athanasios, Feillet, François, Footitt, Emma J., Gospe, Sidney M., Hartmann, Hans, Kara, Majdi, Kristensen, Erle, Lee, Joy, Lilje, Rina
Publikováno v:
Journal of Inherited Metabolic Disease; Jan2021, Vol. 44 Issue 1, p178-192, 15p
Autor:
Pinto, Alex, Evans, Sharon, Daly, Anne, Almeida, Manuela Ferreira, Assoun, Murielle, Belanger-Quintana, Amaya, Bernabei, Silvia Maria, Bollhalder, Sandra, Cassiman, David, Champion, Helena, Chan, Heidi, Corthouts, Karen, Dalmau, Jaime, Boer, Foekje de, Laet, Corinne De, Meyer, An de, Desloovere, An, Dianin, Alice, Dixon, Marjorie, Dokoupil, Katharina
Publikováno v:
Journal of Pediatric Endocrinology & Metabolism; Jan2020, Vol. 33 Issue 1, p147-155, 9p
Publikováno v:
Journal of Pediatric Endocrinology & Metabolism; Jan2020, Vol. 33 Issue 1, pi-iv, 4p
Autor:
Stølen, Linn Helene, Lilje, Rina, Jørgensen, Jens Veilemand, Bliksrud, Yngve Thomas, Almaas, Runar
Publikováno v:
JIMD Reports Volume 13; 2014, p83-90, 8p
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or bioche