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2025
Mark Gene therapy in advanced metachromatic leukodystrophy : tempering expectations
Schoenmakers, Daphne H. ; Beerepoot, Shanice ; Adang, Laura A. ; Asbreuk, Marije A.B.C. ; Bergner, Caroline G. ; Bley, Annette E. ; Boelens, Jaap Jan ; Calbi, Valeria ; Darling, Alejandra and Eklund, Erik ^LU , et al. (2025) In Protein and Cell 16(1). p.12-15
- Contribution to journal › Debate/Note/Editorial
Mark Metachromatic Leukodystrophy : New Therapy Advancements and Emerging Research Directions
Asbreuk, Marije A B C ; Schoenmakers, Daphne H ; Adang, Laura Ann ; Beerepoot, Shanice ; Bergner, Caroline ; Bley, Annette ; Boelens, Jaap Jan ; Bugiani, Marianna ; Calbi, Valeria and García-Cazorla, Àngeles , et al. (2025) In Neurology 105(2).
- Contribution to journal › Scientific review
Mark Key lessons from the first international treatment eligibility committee : the case of metachromatic leukodystrophy
Schoenmakers, Daphne H ; Asbreuk, Marije A B C ; Martin, Tamara ; Datema, Mareen ; Beerepoot, Shanice ; Inbar-Feigenberg, Michal ; Groeschel, Samuel ; Kehrer, Christiane ; Øberg, Andreas and Sevin, Caroline , et al. (2025) In European Journal of Paediatric Neurology 57. p.72-81
- Contribution to journal › Article
2017
Mark Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation
Aldenhoven, Mieke ; Van Den Broek, Brigitte T.A. ; Wynn, Robert F. ; O'Meara, Anne ; Veys, Paul ; Rovelli, Attilio ; Jones, Simon A. ; Parini, Rossella ; Van Hasselt, Peter M. and Renard, Marleen , et al. (2017) In Blood Advances 1(24). p.2236-2242
- Contribution to journal › Article
2014
Mark Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency
Diekman, Eugene F. ; De Koning, Tom J. ^LU ; Verhoeven-Duif, Nanda M. ; Rovers, Maroeska M. and Van Hasselt, Peter M. (2014) In JAMA Neurology 71(2). p.188-194
- Contribution to journal › Article
Mark Impaired cognitive functioning in patients with tyrosinemia type i receiving nitisinone
Bendadi, Fatiha ; De Koning, Tom J. ^LU ; Visser, Gepke ; Prinsen, Hubertus C.M.T. ; De Sain, Monique G.M. ; Verhoeven-Duif, Nanda ; Sinnema, Gerben ; Van Spronsen, Francjan J. and Van Hasselt, Peter M. (2014) In Journal of Pediatrics 164(2). p.398-401
- Contribution to journal › Article
2013
Mark High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase
Heitink-Pollé, Katja M.J. ; Prinsen, Berthil H.C.M.T. ; de Koning, Tom J. ^LU ; van Hasselt, Peter M. and Bierings, Marc B. (2013) In JIMD Reports 7. p.103-108
- Chapter in Book/Report/Conference proceeding › Book chapter
2011
Mark Intracranial bleeding due to vitamin K deficiency : Advantages of using a pediatric intensive care registry
Visser, Désirée Y. ; Jansen, Nicolaas J. ; Ijland, Marloes M. ; De Koning, Tom J. ^LU and Van Hasselt, Peter M. (2011) In Intensive Care Medicine 37(6). p.1014-1020
- Contribution to journal › Article
Mark Metabolic profiles in children during fasting
Van Veen, Merel R. ; Van Hasselt, Peter M. ; De Sain-van Der Velden, Monique G.M. ; Verhoeven, Nanda ; Hofstede, Floris C. ; De Koning, Tom J. ^LU and Visser, Gepke (2011) In Pediatrics 127(4).
- Contribution to journal › Article
2010
Mark Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation
Lübbehusen, Jürgen ; Thiel, Christian ; Rind, Nina ; Ungar, Daniel ; Prinsen, Berthil H.C.M.T. ; de Koning, Tom J. ^LU ; van Hasselt, Peter M. and Körner, Christian (2010) In Human Molecular Genetics 19(18). p.3623-3633
- Contribution to journal › Article

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