Phenylketonuria von Blau, Nenad, Prof, van Spronsen, Francjan J, MD, Levy, Harvey L, Prof

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The complete European guidelines on phenylketonuria: diagnosis and treatment von van Wegberg, A M J, MacDonald, A, Ahring, K, Bélanger-Quintana, A, Blau, N, Bosch, A M, Burlina, A, Campistol, J, Feillet, F, Giżewska, M, Huijbregts, S C, Kearney, S, Leuzzi, V, Maillot, F, Muntau, A C, van Rijn, M, Trefz, F, Walter, J H, van Spronsen, F J

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PKU dietary handbook to accompany PKU guidelines von MacDonald, A, van Wegberg, A M J, Ahring, K, Beblo, S, Bélanger-Quintana, A, Burlina, A, Campistol, J, Coşkun, T, Feillet, F, Giżewska, M, Huijbregts, S C, Leuzzi, V, Maillot, F, Muntau, A C, Rocha, J C, Romani, C, Trefz, F, van Spronsen, F J

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Large Neutral Amino Acid Supplementation Exerts Its Effect through Three Synergistic Mechanisms: Proof of Principle in Phenylketonuria Mice von van Vliet, Danique, Bruinenberg, Vibeke M, Mazzola, Priscila N, van Faassen, Martijn H J R, de Blaauw, Pim, Kema, Ido P, Heiner-Fokkema, M Rebecca, van Anholt, Rogier D, van der Zee, Eddy A, van Spronsen, Francjan J

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Phenylketonuria von van Spronsen, Francjan J., Blau, Nenad, Harding, Cary, Burlina, Alberto, Longo, Nicola, Bosch, Annet M.

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Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU von Daly, A, Evans, S, Chahal, S, Santra, S, Pinto, A, Jackson, R, Gingell, C, Rocha, J, Van Spronsen, F J, MacDonald, A

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Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor von Wortmann, Saskia B., Van Hove, Johan L.K., Derks, Terry G.J., Chevalier, Nathalie, Knight, Vijaya, Koller, Andreas, Oussoren, Esmee, Mayr, Johannes A., van Spronsen, Francjan J., Lagler, Florian B., Gaughan, Sommer, Van Schaftingen, Emile, Veiga-da-Cunha, Maria

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Brain dysfunction in phenylketonuria: Is phenylalanine toxicity the only possible cause? von van Spronsen, F. J, Hoeksma, Marieke, Reijngoud, Dirk-Jan

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Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients von Weerd, Jorine C van der, Wegberg, Annemiek M J van, Boer, Theo S, Engelke, Udo F H, Coene, Karlien L M, Wevers, Ron A, Bakker, Stephan J L, Blaauw, Pim de, Groen, Joost, Spronsen, Francjan J van, Heiner-Fokkema, M Rebecca

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Patient's thoughts and expectations about centres of expertise for PKU von van Wegberg, A M J, MacDonald, A, Abeln, D, Hagedorn, T S, Lange, E, Trefz, F, van Vliet, D, van Spronsen, F J

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Key European guidelines for the diagnosis and management of patients with phenylketonuria von van Spronsen, Francjan J, Prof, van Wegberg, Annemiek MJ, MSc, Ahring, Kirsten, MSc, Bélanger-Quintana, Amaya, MD, Blau, Nenad, Prof, Bosch, Annet M, MD, Burlina, Alberto, MD, Campistol, Jaime, Prof, Feillet, Francois, Prof, Giżewska, Maria, MD, Huijbregts, Stephan C, PhD, Kearney, Shauna, MSc, Leuzzi, Vincenzo, Prof, Maillot, Francois, MD, Muntau, Ania C, Prof, Trefz, Fritz K, Prof, van Rijn, Margreet, PhD, Walter, John H, Prof, MacDonald, Anita, Prof

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Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing von TIMAL, Sharita, HOISCHEN, Alexander, GILISSEN, Christian, RODENBURG, Richard J, EIDHOF, Ilse, VAN DEN HEUVEL, Lambert, THIEL, Christian, WEVERS, Ron A, MORAVA, Eva, VELTMAN, Joris, LEFEBER, Dirk J, LEHLE, Ludwig, ADAMOWICZ, Maciej, HUIJBEN, Karin, SYKUT-CEGIELSKA, Jolanta, PAPROCKA, Justyna, JAMROZ, Ewa, VAN SPRONSEN, Francjan J, KÖRNER, Christian

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Correction to: PKU dietary handbook to accompany PKU guidelines von MacDonald, A, van Wegberg, A. M. J, Ahring, K, Beblo, S, Bélanger-Quintana, A, Burlina, A, Campistol, J, CoÅkun, T, Feillet, F, Giżewska, M, Huijbregts, S. C, Leuzzi, V, Maillot, F, Muntau, A. C, Rocha, J. C, Romani, C, Trefz, F, van Spronsen, F. J

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Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria von Demirdas, Serwet, van Spronsen, Francjan J., Hollak, Carla E.M., van der Lee, J. Hanneke, Bisschop, Peter H., Vaz, Fred M., ter Horst, Nienke M., Rubio-Gozalbo, M. Estela, Bosch, Annet M.

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Dried blood spot versus venous blood sampling for phenylalanine and tyrosine von van Vliet, Kimber, van Ginkel, Wiggert G, van Dam, Esther, de Blaauw, Pim, Koehorst, Martijn, Kingma, Hermi A, van Spronsen, Francjan J, Heiner-Fokkema, M Rebecca

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Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU) von Bruinenberg, Vibeke M, van Vliet, Danique, van der Goot, Els, Counotte, Danielle S, Kuhn, Mirjam, van Spronsen, Francjan J, van der Zee, Eddy A

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Preventive use of nitisinone in alkaptonuria von Wolffenbuttel, Bruce H. R, Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J

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Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls von van Ginkel, Willem G, Jahja, Rianne, Huijbregts, Stephan C J, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Cassiman, David, Eyskens, François, Körver-Keularts, Irene M L W, Goyens, Philippe J, McKiernan, Patrick J, van Spronsen, Francjan J

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Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ von Liemburg, Geertje B., Huijbregts, Stephan C. J., Rutsch, Frank, Feldmann, Reinhold, Jahja, Rianne, Weglage, Josef, Och, Ulrike, Burgerhof, Johannes G. M., van Spronsen, Francjan J.

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Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes? von Evers, Roeland A F, van Wegberg, Annemiek M J, MacDonald, Anita, Huijbregts, Stephan C J, Leuzzi, Vincenzo, van Spronsen, Francjan J

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