Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Tom De Koning"'
Autor:
María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-14 (2019)
Abstract Background Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many are notoriously difficult to detect. Niemann-Pick disease type C (NP-C) se
Externí odkaz:
https://doaj.org/article/31f4bc61a7fe40188129d799120c804d
Autor:
Nikita van de Burgt, Willem van Doesum, Mirjam Grevink, Stephanie van Niele, Tom de Koning, Nicole Leibold, Pilar Martinez-Martinez, Therese van Amelsvoort, Danielle Cath
Publikováno v:
Neuroscience and Biobehavioral Reviews. 144
Inborn errors of metabolism (IEMs) are characterized by deficits in metabolic enzymes as a result of an inherited disease, leading to the accumulation or decreased excretion of proteins, carbohydrates and lipids. Although IEMs are often diagnosed dur
Publikováno v:
Epilepsie, periodiek voor professionals. 19:22-25
De zogenaamde Noordzeeziekte is een zeer zeldzame progressieve myoclonus epilepsie, met een uniek fenotype en, vergeleken met de meeste andere progressieve myoclonus epilepsieën, een zeer vroeg debuut rond het tweede levensjaar met een langzaam prog
Autor:
Josué J. P. Valeton, Tim van Lammeren, Tom de Koning, Erwin R. Meinders, Robert Abbel, Jaquelien van den Boomen
Publikováno v:
MRS Proceedings
Exposure to highly focussed flash light (photonic flash sintering) has been developed as a technology to successfully cure printed metal inks on temperature sensitive plastic substrates. In contrast to the traditional approach of thermal oven sinteri
Publikováno v:
Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases ISBN: 9783642627095
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::337b851c99a02c7caf2e734fc21e69d6
https://doi.org/10.1007/978-3-642-55878-8_9
https://doi.org/10.1007/978-3-642-55878-8_9
Autor:
Hannelie M. Engbers, Ruud Berger, Peter van Hasselt, Tom de Koning, Monique G. M. de Sain-van der Velden, Hester Kroes, Gepke Visser
Publikováno v:
Annals of Neurology. 65:484-484