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2014
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
2010
Mark Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
van Maldegem, Bianca T. ; Duran, Marinus ; Wanders, Ronald J.A. ; Waterham, Hans R. ; de Koning, Tom J. ^LU ; Rubio, Estela and Wijburg, Frits A. (2010) In Journal of Pediatrics 156(1). p.121-127
- Contribution to journal › Article
2005
Mark Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx
Miura, Yoshiaki ; Tay, Stacey K H ; Aw, Marion M ; Eklund, Erik A ^LU and Freeze, Hudson H (2005) In Journal of Pediatrics 147(6). p.851-853
- Contribution to journal › Article
Mark Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology
Eklund, Erik A ^LU ; Sun, Liangwu ; Westphal, Vibeke ; Northrop, Jennifer L ; Freeze, Hudson H and Scaglia, Fernando (2005) In Journal of Pediatrics 147(6). p.50-847
- Contribution to journal › Article
1997
Mark Platelet and immune responses to oral cyclic dexamethasone therapy in childhood chronic immune thrombocytopenic purpura
Kuhne, T. ; Freedman, J. ; Semple, J. W. ^LU ; Doyle, J. ; Butchart, S. and Blanchette, V. S. (1997) In Journal of Pediatrics 130(1). p.17-24
- Contribution to journal › Article

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