Zobrazeno 1 - 7
of 7
pro vyhledávání: '"A V, Vanlander"'
Autor:
Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Paul J. Coucke, Wouter Steyaert, Bert Callewaert, Elke Bogaert, Patrick Verloo, Arnaud V. Vanlander, Elke Debackere, Jody Ghijsels, Pontus LeBlanc, Hannah Verdin, Leslie Naesens, Filomeen Haerynck, Steven Callens, Bart Dermaut, Bruce Poppe, for UD-PrOZA
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background In order to facilitate the diagnostic process for adult patients suffering from a rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015 at the Ghent University Hospital in Belgium. In this study we report th
Externí odkaz:
https://doaj.org/article/132a277748754b7f9f15a3480f1078a1
Autor:
Karen Rosier, Molly T. McDevitt, Joél Smet, Brendan J. Floyd, Maxime Verschoore, Maria J. Marcaida, Craig A. Bingman, Irma Lemmens, Matteo Dal Peraro, Jan Tavernier, Benjamin F. Cravatt, Natalia V. Gounko, Katlijn Vints, Yenthe Monnens, Kritika Bhalla, Laetitia Aerts, Edrees H. Rashan, Arnaud V. Vanlander, Rudy Van Coster, Luc Régal, David J. Pagliarini, John W.M. Creemers
Publikováno v:
iScience, Vol 24, Iss 12, Pp 103460- (2021)
Summary: Deficiency of the serine hydrolase prolyl endopeptidase-like (PREPL) causes a recessive metabolic disorder characterized by neonatal hypotonia, feeding difficulties, and growth hormone deficiency. The pathophysiology of PREPL deficiency and
Externí odkaz:
https://doaj.org/article/a2916c2ecc194c18bb66fc5774a5e60f
Autor:
Elise Vantroys, Joél Smet, Arnaud V. Vanlander, Sarah Vergult, Ruth De Bruyne, Frank Roels, Hedwig Stepman, Herbert Roeyers, Björn Menten, Rudy Van Coster
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Abstract Background The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phe
Externí odkaz:
https://doaj.org/article/c03422226e3b403eb6c94ac47af03afc
Autor:
Delfien Bogaert, Ruth De Bruyne, Arnaud V. Vanlander, Lara Garabedian, Yves Louis, Filomeen Haerynck, Victoria Bordon, Barbara De Moerloose
Publikováno v:
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyREFERENCES. 33(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f7c52ec2e1c0a5e025521e9ca0a722f
https://pubmed.ncbi.nlm.nih.gov/35470934
https://pubmed.ncbi.nlm.nih.gov/35470934
Autor:
Maoxing Tang, Annekatrien Boel, Noemi Castelluccio, Arantxa Cardona Barberán, Antonia Christodoulaki, Bieke Bekaert, Mina Popovic, Frauke Vanden Meerschaut, Petra De Sutter, Björn Menten, Sofie Symoens, Arnaud V. Vanlander, Dominic Stoop, Paul J. Coucke, Björn Heindryckx
Publikováno v:
J Assist Reprod Genet
PURPOSE: Providing additional insights on the efficacy of human nuclear transfer (NT). Here, and earlier, NT has been applied to minimize transmission risk of mitochondrial DNA (mtDNA) diseases. NT has also been proposed for treating infertility, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::809c425c4a3af40d79799bf3dcadd77e
https://pubmed.ncbi.nlm.nih.gov/35064435
https://pubmed.ncbi.nlm.nih.gov/35064435
Autor:
Uwe eAhting, Johannes A Mayr, Arnaud V Vanlander, Steven A Hardy, Saikat eSantra, Christine eMakowski, Charlotte L Alston, Franz A Zimmermann, Lucia eAbela, Barbara ePlecko, Marianne eRohrbach, Stephanie eSpranger, Sara eSeneka, Boris eRolinski, Angela eHagendorff, Maja eHempel, Wolfgang eSperl, Thomas eMeitinger, Joél eSmet, Robert W Taylor, Rudy eVan Coster, Peter eFreisinger, Holger eProkisch, Tobias Bernd Haack
Publikováno v:
Frontiers in Genetics, Vol 6 (2015)
Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective mitochondrial iron-sulfur (Fe-S) cluster biosynthesis, with defects in 13 genes being linked to
Externí odkaz:
https://doaj.org/article/e9e01458e9e24f9ba6840597e50922ed
Autor:
A V, Vanlander, P G, Jorens, J, Smet, B, De Paepe, W, Verbrugghe, G G, Van den Eynden, F, Meire, P, Pauwels, N, Van der Aa, S, Seneca, W, Lissens, J G, Okun, R, Van Coster
Publikováno v:
Acta anaesthesiologica Scandinavica. 56(4)
Propofol is an anesthetic agent widely used for induction and maintenance of anesthesia, and sedation in children. Although generally considered as reliable and safe, administration of propofol can occasionally induce a potentially fatal complication
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1a0d026a5fd7044ce87ec7f499fc1f97
https://pubmed.ncbi.nlm.nih.gov/22260353
https://pubmed.ncbi.nlm.nih.gov/22260353