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

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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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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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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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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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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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Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study von Schwahn, Bernd C, Dr, Van Spronsen, Francjan J, Prof, Belaidi, Abdel A, PhD, Bowhay, Stephen, BSc, Christodoulou, John, Prof, Derks, Terry G, MD, Hennermann, Julia B, Prof, Jameson, Elisabeth, MBBCh, König, Kai, MD, McGregor, Tracy L, MD, Font-Montgomery, Esperanza, MD, Santamaria-Araujo, José A, PhD, Santra, Saikat, MBBCh, Vaidya, Mamta, MD, Vierzig, Anne, MD, Wassmer, Evangeline, MD, Weis, Ilona, MD, Wong, Flora Y, PhD, Veldman, Alex, MD, Schwarz, Günter, Prof

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Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1 von van Ginkel, Willem G., Rodenburg, Iris L., Harding, Cary O., Hollak, Carla E. M., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J.

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Age dependency of plasma vitamin B12 status markers in Dutch children and adolescents von Heiner-Fokkema, M. Rebecca, Riphagen, Ineke J., Wiersema, Nicole S., van Zanden, Jelmer J., Kootstra-Ros, Jenny E., Pinxterhuis, Tineke H., Hooimeijer, H. Louise, van Spronsen, Francjan J., Muller Kobold, Anneke C., de Jong, Wilhelmina H. A.

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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 Evidence for Revision of Treatment Targets and Guidelines for Phenylketonuria von Jahja, Rianne, MSc, Huijbregts, Stephan C.J., PhD, de Sonneville, Leo M.J., PhD, van der Meere, Jaap J., PhD, van Spronsen, Francjan J., MD

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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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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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Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients von van Vliet, Kimber, van Ginkel, Willem G, Jahja, Rianne, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Bierau, Jörgen, van Hasselt, Peter M, Gissen, Paul, Goyens, Philippe J, McKiernan, Patrick J, Wilcox, Gisela, Morris, Andrew A M, Jameson, Elisabeth A, Huijbregts, Stephan C J, van Spronsen, Francjan J

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Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1 von van Ginkel, Willem G, van Vliet, Danique, Burgerhof, Johannes G M, de Blaauw, Pim, Rubio Gozalbo, M Estela, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan J

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Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective von Haitjema, Sietske, Lubout, Charlotte M A, Zijlstra, Justine H M, Wolffenbuttel, Bruce H R, van Spronsen, Francjan J

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