Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Annette Rønholt Larsen"'
Publikováno v:
Frontiers in Endocrinology, Vol 11 (2021)
BackgroundThe diagnosis of congenital hyperinsulinism (CHI) may be hampered by a plasma (p-) insulin detection limit of 12–18 pmol/L (2–3 mU/L).ObjectiveTo evaluate the diagnostic performance of a sensitive insulin immunoassay and to find the opt
Externí odkaz:
https://doaj.org/article/54a946bccc804a0aa5bdef92ae67117d
Autor:
Jayne A L Houghton, Elisa De Franco, Raúl Calzada‐León, Siri Atma W. Greeley, Daniela del Gaudio, Annette Rønholt Larsen, Klaus Brusgaard, Elisa Nishimura-Meguro, Christine Bellanné-Chantelot, Bradley Harman, Sarah E. Flanagan, Amy E. Knight Johnson, Jean-Baptiste Arnoux, Cécile Saint-Martin, Pamela Bowman, Thomas W Laver, May Sanyoura, Sian Ellard, Lydia Aguilar-Bryan, Henrik Thybo Christesen
Publikováno v:
Human Mutation
De Franco, E, Saint-Martin, C, Brusgaard, K, Knight Johnson, A E, Aguilar-Bryan, L, Bowman, P, Arnoux, J B, Larsen, A R, May, S, Greeley, S A W, Calzada-León, R, Harman, B, Houghton, J A L, Nishimura-Meguro, E, Laver, T W, Ellard, S, del Gaudio, D, Christesen, H T, Bellanné-Chantelot, C & Flanagan, S E 2020, ' Update of variants identified in the pancreatic β-cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes ', Human Mutation, vol. 41, no. 5, pp. 884-905 . https://doi.org/10.1002/humu.23995
De Franco, E, Saint-Martin, C, Brusgaard, K, Knight Johnson, A E, Aguilar-Bryan, L, Bowman, P, Arnoux, J B, Larsen, A R, May, S, Greeley, S A W, Calzada-León, R, Harman, B, Houghton, J A L, Nishimura-Meguro, E, Laver, T W, Ellard, S, del Gaudio, D, Christesen, H T, Bellanné-Chantelot, C & Flanagan, S E 2020, ' Update of variants identified in the pancreatic β-cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes ', Human Mutation, vol. 41, no. 5, pp. 884-905 . https://doi.org/10.1002/humu.23995
The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the β‐cell ATP‐sensitive potassium channel, a key component of the glucose‐stimulated insulin
Publikováno v:
Journal of the Endocrine Society
Background: The diagnosis of congenital hyperinsulinism (CHI) is often hampered by a plasma insulin (p-insulin) detection limit of 2-3 mU/L (14-21 pmol/L) by RIA methods. Objective: To evaluate the diagnostic performance of a sensitive immunoassay fo
Autor:
Maria Elfving, Torbjörn Backman, Henrik Thybo Christesen, Henrik Petersen, Tord Jonson, Lars Kjærsgaard Hansen, Klaus Brusgaard, Lene Gaarsmand Christensen, Annette Rønholt Larsen, Åsa Löfgren, Sönke Detlefsen, Karen Grønskov, Johan Svensson, Sofie Samuelsson, Lars S. Rasmussen, Karen Brøndum-Nielsen
Publikováno v:
Christesen, H T, Christensen, L G, Löfgren, Å M, Brøndum-Nielsen, K, Svensson, J, Brusgaard, K, Samuelsson, S, Elfving, M, Jonson, T, Grønskov, K, Rasmussen, L, Backman, T, Hansen, L K, Larsen, A R, Petersen, H & Detlefsen, S 2020, ' Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism ', European Journal of Medical Genetics, vol. 63, no. 1, 103632 . https://doi.org/10.1016/j.ejmg.2019.02.004
Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a rarely recognised disorder. The phenotypic manifestations of multilocus imprinting defects (MLIDs) remain unclear. We report of an apparently non-syndromic infant with severe congenital hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::946f689bcc2d3bd2f76ac1c08ef087c0
https://findresearcher.sdu.dk:8443/ws/files/159699326/1_s2.0_S1769721218309327_main.pdf
https://findresearcher.sdu.dk:8443/ws/files/159699326/1_s2.0_S1769721218309327_main.pdf