Zobrazeno 1 - 10
of 1 070
pro vyhledávání: '"Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]"'
Autor:
Maria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, Shan Wang, Charlotte W Ockeloen, David A Koolen, Rolph Pfundt, Carlo L M Marcelis, Eva Brilstra, Jennifer L Howe, Stephen W Scherer, Xavier Le Guillou, Frédéric Bilan, Michelle Primiano, Jasmin Roohi, Amelie Piton, Anne de Saint Martin, Sarah Baer, Simone Seiffert, Konrad Platzer, Rami Abou Jamra, Steffen Syrbe, Jan H Doering, Shenela Lakhani, Srishti Nangia, Christian Gilissen, R Jeroen Vermeulen, Rob P W Rouhl, Han G Brunner, Marjolein H Willemsen, Nael Nadif Kasri
Publikováno v:
Human Molecular Genetics, 32, 14, pp. 2373-2385
Purpose To characterize a novel neurodevelopmental syndrome due to loss-of-function (LoF) variants in Ankyrin 2 (ANK2), and to explore the effects on neuronal network dynamics and homeostatic plasticity in human-induced pluripotent stem cell-derived
Autor:
Imke M. E. Schuurmans, Bianca Dimitrov, Julian Schröter, Antonia Ribes, Rubén Pérez de la Fuente, Berta Zamora, Clara D. M. van Karnebeek, Stefan Kölker, Alejandro Garanto
Publikováno v:
Journal of Inherited Metabolic Disease, 46, 3, pp. 371-390
Journal of Inherited Metabolic Disease, 46, 371-390
Journal of Inherited Metabolic Disease, 46, 371-390
Contains fulltext : 292922.pdf (Publisher’s version ) (Open Access) Glutaric aciduria type 1 (GA1) is a rare neurometabolic disease caused by pathogenic variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). We performed an ext
Autor:
Annechien E.G. Haarman, Caroline C.W. Klaver, Milly S. Tedja, Susanne Roosing, Galuh Astuti, Christian Gilissen, Lies H. Hoefsloot, Marianne van Tienhoven, Tom Brands, Frank J. Magielsen, Bert H.J.F.M.M. Eussen, Annelies de Klein, Erwin Brosens, Virginie J.M. Verhoeven
Publikováno v:
Ophthalmology science, 3(4):100303
Ophthalmology Science, 3
Ophthalmology Science, 3, 4
Ophthalmology Science, 3
Ophthalmology Science, 3, 4
Contains fulltext : 293290.pdf (Publisher’s version ) (Open Access) PURPOSE: Myopia (nearsightedness) is a condition in which a refractive error (RE) affects vision. Although common variants explain part of the genetic predisposition (18%), most of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca04a72361fd924edfd7c71cba7dacff
https://pure.eur.nl/en/publications/c0c638d9-f21a-4536-9179-bb91b844a2ab
https://pure.eur.nl/en/publications/c0c638d9-f21a-4536-9179-bb91b844a2ab
Autor:
Linda C. A. Drenthen, Mandala Ajie, Evertine J. Abbink, Laura Rodwell, Dick H. J. Thijssen, Cees J. Tack, Bastiaan E. de Galan
Publikováno v:
Diabetologia, 66, 1035-1044
Diabetologia, 66(6), 1035-1044. Springer, Cham
Diabetologia, 66, 6, pp. 1035-1044
Diabetologia, 66(6), 1035-1044. Springer, Cham
Diabetologia, 66, 6, pp. 1035-1044
Aims/hypothesis It is generally recommended to reduce basal insulin doses after exercise to reduce the risk of post-exercise nocturnal hypoglycaemia. Based on its long t½, it is unknown whether such adjustments are required or beneficial for insulin
Autor:
Lando Janssen, Maria T. E. Hopman, Greetje J. A. Swaans, Neeltje A. E. Allard, Marti Boss, Daphne Lobeek, Martin Gotthardt, Tom J. J. Schirris, Nicole M. A. Blijlevens, Silvie Timmers
Publikováno v:
American Journal of Physiology : Endocrinology and Metabolism, 324, 3, pp. E209-E216
American Journal of Physiology. Endocrinology and Metabolism 324 (2023) 3
American Journal of Physiology. Endocrinology and Metabolism, 324(3), E209-E216
American Journal of Physiology : Endocrinology and Metabolism, 324, E209-E216
American Journal of Physiology. Endocrinology and Metabolism 324 (2023) 3
American Journal of Physiology. Endocrinology and Metabolism, 324(3), E209-E216
American Journal of Physiology : Endocrinology and Metabolism, 324, E209-E216
Item does not contain fulltext Treatment with tyrosine kinase inhibitors (TKIs), especially nilotinib, often results in hyperglycemia, which may further increase cardiovascular disease risk in patients with chronic myeloid leukemia (CML). The mechani
Autor:
Xiao Chen, John Harting, Emily Farrow, Isabelle Thiffault, Dalia Kasperaviciute, Alexander Hoischen, Christian Gilissen, Tomi Pastinen, Michael A. Eberle
Publikováno v:
American Journal of Human Genetics, 110, 2, pp. 240-250
American Journal of Human Genetics, 110, 240-250
American Journal of Human Genetics, 110, 240-250
Contains fulltext : 290548.pdf (Publisher’s version ) (Open Access)
Autor:
Merel A. Post, Isis de Wit, Fokje S. M. Zijlstra, Udo F. H. Engelke, Arno van Rooij, John Christodoulou, Tiong Yang Tan, Anna Le Fevre, Danqun Jin, Joy Yaplito‐Lee, Beom Hee Lee, Karen J. Low, Andrew A. Mallick, Katrin Õunap, James Pitt, William Reardon, Mari‐Anne Vals, Saskia B. Wortmann, Hans J. C. T. Wessels, Melissa Bärenfänger, Clara D. M. van Karnebeek, Dirk J. Lefeber
Publikováno v:
Journal of Inherited Metabolic Disease, 46, 2, pp. 313-325
Post, M A, De Wit, I, Zijlstra, F, Low, K J, Van Karnebeek, C, Lefeber, D & et, A 2023, ' MOGS-CDG : quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases ', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 313-325 . https://doi.org/10.1002/jimd.12588, https://doi.org/10.1002/jimd.12588
Journal of Inherited Metabolic Disease, 46, 313-325
Post, M A, De Wit, I, Zijlstra, F, Low, K J, Van Karnebeek, C, Lefeber, D & et, A 2023, ' MOGS-CDG : quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases ', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 313-325 . https://doi.org/10.1002/jimd.12588, https://doi.org/10.1002/jimd.12588
Journal of Inherited Metabolic Disease, 46, 313-325
Contains fulltext : 290862.pdf (Publisher’s version ) (Open Access) Congenital disorders of glycosylation (CDG) are a clinically and biochemically heterogeneous subgroup of inherited metabolic disorders. Most CDG with abnormal N-glycosylation can b
Autor:
Maartje Pennings, Rowdy P. P. Meijer, Monique Gerrits, Jannie Janssen, Rolph Pfundt, Nicole de Leeuw, Christian Gilissen, Thatjana Gardeitchik, Meyke Schouten, Nicol Voermans, Bart van de Warrenburg, Erik-Jan Kamsteeg
Publikováno v:
European Journal of Human Genetics, 31, 6, pp. 654-662
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 31, 654-662
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 31, 654-662
Various groups of neurological disorders, including movement disorders and neuromuscular diseases, are clinically and genetically heterogeneous. Diagnostic panel-based exome sequencing is a routine test for these disorders. Despite the success rates
Autor:
Charlotte A. Hoogstraten, Maaike M. E. Jacobs, Guido de Boer, Melissa A. E. van de Wal, Werner J. H. Koopman, Jan A. M. Smeitink, Frans G. M. Russel, Tom J. J. Schirris
Publikováno v:
Archives of Toxicology, 97, 1927-1941
Archives of Toxicology, 97, 7, pp. 1927-1941
Archives of Toxicology, 97, 7, pp. 1927-1941
Mitochondrial dysfunction is pivotal in drug-induced acute kidney injury (AKI), but the underlying mechanisms remain largely unknown. Transport proteins embedded in the mitochondrial inner membrane form a significant class of potential drug off-targe
Autor:
Vrieling, F., Stienstra, R.
Publikováno v:
Trends in Immunology, 44, 3, pp. 217-230
Trends in Immunology 44 (2023) 3
Trends in Immunology, 44(3), 217-230
Trends in Immunology, 44, 217-230
Trends in Immunology 44 (2023) 3
Trends in Immunology, 44(3), 217-230
Trends in Immunology, 44, 217-230
Item does not contain fulltext Obesity is associated with the development of various complications, including diabetes, atherosclerosis, and an increased risk for infections, driven by dysfunctional innate immune responses. Recent insights have revea