학술논문
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'학술논문'
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1~20
Academic Journal
Eur J Hum Genet
European Journal of Human Genetics, 32, 2, pp. 146-149
European Journal of Human Genetics, 32, 2, pp. 146-149
Academic Journal
Annelieke R. Müller; Erik Boot; Stijn B. Notermans; Carlo Schuengel; Lidewij Henneman; Martina C. Cornel; Mieke M. van Haelst; Mariëlle Alders; Clara D. M. van Karnebeek; Bas Bijl; Frits A. Wijburg; Agnies M. van Eeghen
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Academic Journal
Marianna Bugiani; Truus E. M. Abbink; Arthur W. D. Edridge; Lia van der Hoek; Anne E. J. Hillen; Niek P. van Til; Gino V. Hu‐A‐Ng; Marjolein Breur; Karen Aiach; Philippe Drevot; Michaël Hocquemiller; Ralph Laufer; Frits A. Wijburg; Marjo S. van der Knaap
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 10, Iss 6, Pp 904-917 (2023)
Bugiani, M, Abbink, T E M, Edridge, A W D, van der Hoek, L, Hillen, A E J, van Til, N P, Hu-A-Ng, G V, Breur, M, Aiach, K, Drevot, P, Hocquemiller, M, Laufer, R,Wijburg , F A & van der Knaap, M S 2023, 'Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA', Annals of Clinical and Translational Neurology, vol. 10, no. 6, pp. 904-917. https://doi.org/10.1002/acn3.51772
Annals of Clinical and Translational Neurology, Vol 10, Iss 6, Pp 904-917 (2023)
Bugiani, M, Abbink, T E M, Edridge, A W D, van der Hoek, L, Hillen, A E J, van Til, N P, Hu-A-Ng, G V, Breur, M, Aiach, K, Drevot, P, Hocquemiller, M, Laufer, R,
Academic Journal
Mew, Nicholas Ah ; Seminara, Jennifer ; Burrage, Lindsay C. ; Berry, Gerard T. ; Breilyn, Margo ; Schulze, Andreas ; Harding, Cary O. ; Berry, Susan A. ; Wong, Derek ; McCandless, Shawn E. ; Baumgartner, Matthias R. ; Konczal, Laura ; Ficicioglu, Can ; Diaz, George A. ; Coughlin, Curtis R., 2nd ; Enns, Gregory M. ; Gallagher, Renata C. ; Lam, Christina ; Stricker, Tamar ; Wilkening, Greta ; Dionisi-Vici, Carlo ; Dobbelaere, Dries ; Blasco-Alonso, Javier ; Burlina, Alberto B. ; Freisinger, Peter ; van Hasselt, Peter M. ; Skouma, Anastasia ; Lund, Allan M. ; Vara, Roshni ; Sarajlija, Adrijan ; Morris, Andrew A. ; Chakrapani, Anupam ; Barić, Ivo ; Augoustides-Savvopoulou, Persephone ; Chien, Yin-Hsiu ; Cortès-Saladelafont, Elisenda ; Eyskens, Francois ; Gramer, Gwendolyn ; Zeman, Jiri ; Karall, Daniela ; Couce, Maria L. ; Mühlhausen, Chris ; Pedrón-Giner, Consuelo ; Spiekerkoetter, Ute ; Sykut-Cegielska, Jolanta ; Wagenmakers, Margreet ; Wijburg, Frits A. ; Posset, Roland ; Garbade, Sven F. ; Gleich, Florian ; Scharre, Svenja ; Okun, Jürgen G. ; Gropman, Andrea L. ; Nagamani, Sandesh C.S. ; Druck, Ann-Catrin ; Epp, Friederike ; Hoffmann, Georg F. ; Kölker, Stefan ; Zielonka, Matthias
In Genetics in Medicine April 2024 26(4)
Academic Journal
Müller, Annelieke R.; Boot, Erik; Notermans, Stijn B.; Schuengel, Carlo; Henneman, Lidewij; Cornel, Martina C.; van Haelst, Mieke M.; Alders, Mariëlle; van Karnebeek, Clara D. M.; Bijl, Bas; Wijburg, Frits A.; van Eeghen, Agnies M.
Academic Journal
Annelieke R. Müller; Nadia Y. van Silfhout; Bibiche den Hollander; Dick H. C. Kampman; Lianne Bakkum; Marion M. M. G. Brands; Lotte Haverman; Caroline B. Terwee; Carlo Schuengel; Joost Daams; David Hessl; Frits A. Wijburg; Erik Boot; Agnies M. van Eeghen
Ther Adv Rare Dis
Müller, A R, van Silfhout, N Y, den Hollander, B, Kampman, D H C, Bakkum, L, Brands, M M M G, Haverman, L, Terwee, C B, Schuengel, C, Daams, J, Hessl, D,Wijburg , F A, Boot, E & van Eeghen, A M 2024, 'Navigating the outcome maze : a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability', Therapeutic Advances in Rare Disease, vol. 5. https://doi.org/10.1177/26330040241245721
Müller, A R, van Silfhout, N Y, den Hollander, B, Kampman, D H C, Bakkum, L, Brands, M M M G, Haverman, L, Terwee, C B, Schuengel, C, Daams, J, Hessl, D,
Academic Journal
Sander F. Garrelfs; Dewi van Harskamp; Hessel Peters-Sengers; Chris H.P. van den Akker; Ronald J.A. Wanders; Frits A. Wijburg; Johannes B. van Goudoever; Jaap W. Groothoff; Henk Schierbeek; Michiel J.S. Oosterveld
Garrelfs, S F, Van Harskamp, D, Peters-Sengers, H, Van Den Akker, C H P, Wanders, R J A, Wijburg , F A, Van Goudoever, J B, Groothoff, J W, Schierbeek, H & Oosterveld, M J S 2021, 'Endogenous oxalate production in primary hyperoxaluria type 1 patients', Journal of the American Society of Nephrology, vol. 32, no. 12. https://doi.org/10.1681/ASN.2021060729
Academic Journal
Tseng, Laura A. ; Abdenur, Jose E. ; Andrews, Ashley ; Aziz, Verena G. ; Bok, Levinus A. ; Boyer, Monica ; Buhas, Daniela ; Hartmann, Hans ; Footitt, Emma J. ; Grønborg, Sabine ; Janssen, Mirian C.H. ; Longo, Nicola ; Lunsing, Roelineke J. ; MacKenzie, Alex E. ; Wijburg, Frits A. ; Gospe, Sidney M., Jr ; Coughlin, Curtis R., II ; van Karnebeek, Clara D.M.
In Molecular Genetics and Metabolism April 2022 135(4):350-356
Academic Journal
Wijburg, Frits A. ; Aiach, Karen ; Chakrapani, Anupam ; Eisengart, Julie B. ; Giugliani, Roberto ; Héron, Bénédicte ; Muschol, Nicole ; O'Neill, Cara ; Olivier, Sophie ; Parker, Samantha
In Molecular Genetics and Metabolism February 2022 135(2):133-142
Academic Journal
Wijburg, Frits A. ; Heap, Fiona ; Rust, Stewart ; de Ruijter, Jessica ; Tump, Evelien ; Marchal, Jan Pieter ; Nestrasil, Igor ; Shapiro, Elsa ; Jones, Simon A. ; Alexanderian, David
In Molecular Genetics and Metabolism December 2021 134(4):317-322
Academic Journal
Wijburg, Frits A. ; Whitley, Chester B. ; Muenzer, Joseph ; Gasperini, Serena ; del Toro, Mireia ; Muschol, Nicole ; Cleary, Maureen ; Sevin, Caroline ; Shapiro, Elsa ; Alexanderian, David
In Molecular Genetics and Metabolism September-October 2021 134(1-2):175-181
Academic Journal
J Community Genet
Conijn, T, van Dijke, I, Haverman, L, Lakeman, P,Wijburg , F A & Henneman, L 2021, 'Preconception expanded carrier screening : a focus group study with relatives of mucopolysaccharidosis type III patients and the general population', Journal of Community Genetics, vol. 12, no. 3, pp. 311-323. https://doi.org/10.1007/s12687-021-00519-2
Conijn, T, van Dijke, I, Haverman, L, Lakeman, P,
Academic Journal
Suzan J.G. Knottnerus; Dewi van Harskamp; Henk Schierbeek; Jeannette C. Bleeker; Loek L. Crefcoeur; Sacha Ferdinandusse; Johannes B. van Goudoever; Riekelt H. Houtkooper; Lodewijk IJlst; Mirjam Langeveld; Ronald J.A. Wanders; Frédéric M. Vaz; Frits A. Wijburg; Gepke Visser
Clinical Nutrition. 40:1396-1404
Academic Journal
Sally Lanar; Samantha Parker; Cara O’Neill; Alexia Marrel; Benoit Arnould; Bénédicte Héron; Nicole Muschol; Frits A. Wijburg; Anupam Chakrapani; Sophie Olivier; Karen Aiach
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Academic Journal
Loek L. Crefcoeur; Monique G. M. de Sain‐van der Velden; Sacha Ferdinandusse; Mirjam Langeveld; Rose Maase; Frédéric M. Vaz; Gepke Visser; Ronald J.A. Wanders; Frits A. Wijburg; Rendelien K. Verschoof‐Puite; Peter C. J. I. Schielen
JIMD Rep
JIMD Reports, Vol 56, Iss 1, Pp 95-104 (2020)
JIMD Reports, Vol 56, Iss 1, Pp 95-104 (2020)
Academic Journal
Suzan J. G. Knottnerus; Jeannette C. Bleeker; Sacha Ferdinandusse; Riekelt H. Houtkooper; Mirjam Langeveld; Aart J. Nederveen; Gustav J. Strijkers; Gepke Visser; Ronald J. A. Wanders; Frits A. Wijburg; S. Matthijs Boekholdt; Adrianus J. Bakermans
J Inherit Metab Dis
Academic Journal
European Journal of Human Genetics. 32(2):247-247
Academic Journal
Knottnerus, Suzan J.G. ; Pras-Raves, Mia L. ; van der Ham, Maria ; Ferdinandusse, Sacha ; Houtkooper, Riekelt H. ; Schielen, Peter C.J.I. ; Visser, Gepke ; Wijburg, Frits A. ; de Sain-van der Velden, Monique G.M.
In BBA - Molecular Basis of Disease 1 June 2020 1866(6)
Academic Journal
Mendy M. Welsink‐Karssies; Dewi van Harskamp; Sacha Ferdinandusse; Carla E. M. Hollak; Hidde H. Huidekoper; Mirian C. H. Janssen; E. Marleen Kemper; Janneke G. Langendonk; M. Estela Rubio‐Gozalbo; Maaike C. de Vries; Frits A. Wijburg; Henk Schierbeek; Annet M. Bosch
J Inherit Metab Dis
Journal of Inherited Metabolic Disease, 43, 3, pp. 507-517
Journal of Inherited Metabolic Disease, 43, 3, pp. 507-517
Academic Journal
Lorne A. Clarke; Roberto Giugliani; Nathalie Guffon; Simon A. Jones; Hillary A. Keenan; Maria V. Munoz‐Rojas; Torayuki Okuyama; David Viskochil; Chester B. Whitley; Frits A. Wijburg; Joseph Muenzer
Clin Genet
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