Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ingrid Metgod"'
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
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 8 (2020)
X-linked adrenoleukodystrophy (ALD) is a devastating metabolic disorder affecting the adrenal glands, brain and spinal cord. Males with ALD are at high risk for developing adrenal insufficiency or progressive cerebral white matter lesions (cerebral A
Externí odkaz:
https://doaj.org/article/ef6ca06a8b4c424b8d5d42322daa9ee4
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
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
https://research.vumc.nl/en/publications/6ad7cdf2-7145-4f87-9bd0-e8c82987aae5
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
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
In the original article, there was a mistake in the legend for Figure 6 as published. Three numbers were not in superscript which changed concentrations and there was an error in dosage. The correct legend appears below. The authors apologize for thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38bf6f0c3460bd0368bdf286341604ea
http://hdl.handle.net/10029/624696
http://hdl.handle.net/10029/624696