Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Autor: Rinse W. Barendsen, Inge M. E. Dijkstra, Wouter F. Visser, Mariëlle Alders, Jet Bliek, Anita Boelen, Marelle J. Bouva, Saskia N. van der Crabben, Ellen Elsinghorst, Ankie G. M. van Gorp, Annemieke C. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, Henk van Lenthe, Ingrid Metgod, Christiaan F. Mooij, Elise H. C. van der Sluijs, A. S. Paul van Trotsenburg, Rendelien K. Verschoof-Puite, Frédéric M. Vaz, Hans R. Waterham, Frits A. Wijburg, Marc Engelen, Eugènie Dekkers, Stephan Kemp

Publikováno v: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

Externí odkaz: https://doaj.org/article/054f31fb4bc844b1b2796b22e145115b

BIO FOr CARE

Autor: Ludolf G. Boven, Yvonne M. Hoedemaekers, J. van der Velden, J. P. van Tintelen, A. A. M. Wilde, S. N. van der Crabben, Dennis Dooijes, Roy Huurman, Folkert W. Asselbergs, Jan D. H. Jongbloed, Judith J.M. Jans, Michelle Michels, Annette F. Baas, R. H. Lekanne Deprez, I. Christiaans, R. A. De Boer, Mandy Jansen

Publikováno v: Netherlands Heart Journal, 29, 6, pp. 318-29
Netherlands Heart Journal, 29(6), 318-329. Bohn Stafleu van Loghum
Jansen, M, Christiaans, I, van der Crabben, S N, Michels, M, Huurman, R, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Lekanne Deprez, R H, Wilde, A A M, Jans, J J M, van der Velden, J, de Boer, R A, van Tintelen, J P, Asselbergs, F W & Baas, A F 2021, ' BIO FOr CARE : biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status ', Netherlands Heart Journal, vol. 29, no. 6, pp. 318-329 . https://doi.org/10.1007/s12471-021-01539-w
Netherlands heart journal, 29(6), 318-329. Bohn Stafleu van Loghum
Netherlands Heart Journal, 29, 318-29
Netherlands Heart Journal
Netherlands Heart Hournal, 29, 318-329. Bohn, Stafleu, Van Loghum

Background Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by truncating variants in the MYBPC3 gene. HCM is an important cause of sudden cardiac death; however, overall prognosis is good and penetranc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61ebb83ee15e629508d991092075c7e2
https://doi.org/10.1007/s12471-021-01539-w

Sex-specific newborn screening for X-linked adrenoleukodystrophy

Autor: Monique Albersen, Samantha L. van der Beek, Inge M. E. Dijkstra, Mariëlle Alders, Rinse W. Barendsen, Jet Bliek, Anita Boelen, Merel S. Ebberink, Sacha Ferdinandusse, Susan M. I. Goorden, Annemieke C. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, Ingrid Metgod, Gajja S. Salomons, Frédéric M. Vaz, Rendelien K. Verschoof‐Puite, Wouter F. Visser, Eugènie Dekkers, Marc Engelen, Stephan Kemp

Publikováno v: Albersen, M, van der Beek, S L, Dijkstra, I M E, Alders, M, Barendsen, R W, Bliek, J, Boelen, A, Ebberink, M S, Ferdinandusse, S, Goorden, S M I, Heijboer, A C, Jansen, M, Jaspers, Y R J, Metgod, I, Salomons, G S, Vaz, F M, Verschoof-Puite, R K, Visser, W F, Dekkers, E, Engelen, M & Kemp, S 2022, ' Sex-specific newborn screening for X-linked adrenoleukodystrophy ', Journal of Inherited Metabolic Disease . https://doi.org/10.1002/jimd.12571
Journal of inherited metabolic disease, 46(1), 116-128. Springer Netherlands
Journal of Inherited Metabolic Disease. Springer Netherlands

Males with X-linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic variants in ABCD1 result in elevated levels of very long-chain fatty aci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3e1a26a87773ce1bef64705ede37a10
https://research.vumc.nl/en/publications/6ad7cdf2-7145-4f87-9bd0-e8c82987aae5