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Quantitative multivoxel 1H MR spectroscopy of the brain in children with acute liver failure.
Published in:
2008
By:
- Sijens PE;
- Alkefaji H;
- Lunsing RJ;
- van Spronsen FJ;
- Meiners LC;
- Oudkerk M;
- Verkade HJ;
- Sijens, Paul E;
- Alkefaji, Heyder;
- Lunsing, Roelineke J;
- van Spronsen, Francjan J;
- Meiners, Linda C;
- Oudkerk, Matthijs;
- Verkade, Henkjan J
Publication type:
journal article
Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation.
Published in:
2007
By:
- Verbruggen, Krijn T.;
- Knijff, Wilma A.;
- Soorani-Lunsing, Roelineke J.;
- Sijens, Paul E.;
- Verhoeven, Nanda M.;
- Salomons, Gajja S.;
- Goorhuis-Brouwer, Siena M.;
- Van Spronsen, Francjan J.
Publication type:
journal article
Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease.
Published in:
2007
By:
- Hoeksma, Marieke;
- Boon, Maartje;
- Niezen-Koning, Klary E.;
- Van Overbeek-Van Gils, Lidy;
- Van Spronsen, Francjan J.
Publication type:
journal article
Safe and unsafe duration of fasting for children with MCAD deficiency.
Published in:
2007
By:
- Derks, Terry G. J.;
- Van Spronsen, Francjan J.;
- Rake, Jan Peter;
- Van der Hilst, Christian S.;
- Span, Mark M.;
- Smit, G. Peter A.
Publication type:
journal article
Influence of knowledge of the disease on metabolic control in phenylketonuria.
Published in:
2003
By:
- Bekhof, Jolita;
- van Spronsen, Francjan J.;
- Crone, Matty R.;
- van Rijn, Margreet;
- Oudshoorn, Carin G. M.;
- Verkerk, Paul H.
Publication type:
journal article
A different approach to breast-feeding of the infant with phenylketonuria.
Published in:
2003
By:
- van Rijn, Margreet;
- Bekhof, Jolita;
- Dijkstra, Tietie;
- Smit, Peter G. P. A.;
- Moddermam, Pim;
- van Spronsen, Francjan J.
Publication type:
journal article
End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-indication for liver transplantation.
Published in:
2000
By:
- Rake, Jan Peter;
- van Spronsen, Francjan J.;
- Visser, Gepke;
- Ruitenbeek, Wim;
- Schweizer, Joachim J.;
- Bijleveld, Charles M. A.;
- Peeters, Paul M. J. G.;
- de Jong, Koert P.;
- Slooff, Maarten J. H.;
- Reijngoud, Dirk-Jan;
- Niezen-Koning, Klary E.;
- Smit, G. Peter A.;
- Rake, J P;
- van Spronsen, F J;
- Visser, G;
- Ruitenbeek, W;
- Schweizer, J J;
- Bijleveld, C M;
- Peeters, P M;
- de Jong, K P
Publication type:
journal article
Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.
Published in:
Neonatology (16617800), 2016, v. 109, n. 4, p. 297, doi. 10.1159/000443874
By:
- van Rijt, Willemijn J.;
- Koolhaas, Geneviève D.;
- Bekhof, Jolita;
- Heiner Fokkema, M. Rebecca;
- de Koning, Tom J.;
- Visser, Gepke;
- Schielen, Peter C.J.I.;
- van Spronsen, Francjan J.;
- Derks, Terry G.J.
Publication type:
Article
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls.
Published in:
2016
By:
- 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.
Publication type:
journal article
The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
Published in:
2016
By:
- Anjema, Karen;
- Hofstede, Floris C.;
- Bosch, Annet M.;
- Rubio-Gozalbo, M. Estela;
- de Vries, Maaike C.;
- Boelen, Carolien C. A.;
- van Rijn, Margreet;
- van Spronsen, Francjan J.
Publication type:
journal article
Single amino acid supplementation in aminoacidopathies: a systematic review.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-7
By:
- van Vliet, Danique;
- Derks, Terry G. J.;
- van Rijn, Margreet;
- de Groot, Martijn J.;
- MacDonald, Anita;
- Heiner-Fokkema, M. Rebecca;
- van Spronsen, Francjan J.
Publication type:
Article
Single amino acid supplementation in aminoacidopathies: a systematic review.
Published in:
2014
By:
- van Vliet, Danique;
- Derks, Terry Gj;
- van Rijn, Margreet;
- de Groot, Martijn J;
- Macdonald, Anita;
- Heiner-Fokkema, M Rebecca;
- van Spronsen, Francjan J;
- Derks, Terry G J
Publication type:
journal article
Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-133
By:
- de Groot, Martijn J.;
- Hoeksma, Marieke;
- Reijngoud, Dirk-Jan;
- de Valk, Harold W.;
- Paans, Anne MJ;
- Sauer, Pieter JJ;
- van Spronsen, Francjan J.
Publication type:
Article
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-103
By:
- Anjema, Karen;
- Rijn, Margreet van;
- Hofstede, Floris C.;
- Bosch, Annet M.;
- Hollak, Carla E. M.;
- Rubio-Gozalbo, Estela;
- De Vries, Maaike C.;
- Janssen, Mirian C. H.;
- Boelen, Carolien C. A.;
- Burgerhof, Johannes G. M.;
- Blau, Nenad;
- Rebecca Heiner-Fokkema, M.;
- Van Spronsen, Francjan J.
Publication type:
Article
Clinical pathways for inborn errors of metabolism: warranted and feasible.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-37
By:
- Demirdas, Serwet;
- van Kesse, Imke N.;
- Korndewal, Marjolein J.;
- Hollak, Carla EM;
- Meutgeert, Hanka;
- Klaren, Anja;
- Rijn, Margreet van;
- van Spronsen, Francjan J.;
- Bosch, Annet M.
Publication type:
Article
Clinical pathways for inborn errors of metabolism: warranted and feasible.
Published in:
2013
By:
- Demirdas, Serwet;
- van Kessel, Imke N;
- Korndewal, Marjolein J;
- Hollak, Carla Em;
- Meutgeert, Hanka;
- Klaren, Anja;
- van Rijn, Margreet;
- van Spronsen, Francjan J;
- Bosch, Annet M;
- Dutch working Group;
- Hollak, Carla E M
Publication type:
Letter
Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis.
Published in:
2013
By:
- de Groot, Martijn J;
- Hoeksma, Marieke;
- Reijngoud, Dirk-Jan;
- de Valk, Harold W;
- Paans, Anne Mj;
- Sauer, Pieter Jj;
- van Spronsen, Francjan J;
- Paans, Anne M J;
- Sauer, Pieter J J
Publication type:
journal article
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Published in:
2013
By:
- Anjema, Karen;
- van Rijn, Margreet;
- Hofstede, Floris C;
- Bosch, Annet M;
- Hollak, Carla Em;
- Rubio-Gozalbo, Estela;
- de Vries, Maaike C;
- Janssen, Mirian Ch;
- Boelen, Carolien Ca;
- Burgerhof, Johannes Gm;
- Blau, Nenad;
- Heiner-Fokkema, M Rebecca;
- van Spronsen, Francjan J;
- Hollak, Carla E M;
- Janssen, Mirian C H;
- Boelen, Carolien C A;
- Burgerhof, Johannes G M
Publication type:
journal article
Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.
Published in:
Metabolites (2218-1989), 2024, v. 14, n. 9, p. 479, doi. 10.3390/metabo14090479
By:
- 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
Publication type:
Article
Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.
Published in:
2016
By:
- Vester, Marloes;
- Visser, Gepke;
- Wijburg, Frits;
- Spronsen, Francjan;
- Williams, Monique;
- Rijn, Rick;
- Vester, Marloes E M;
- Wijburg, Frits A;
- van Spronsen, Francjan J;
- van Rijn, Rick R
Publication type:
journal article
Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.
Published in:
2016
By:
- Giżewska, Maria;
- MacDonald, Anita;
- Bélanger-Quintana, Amaya;
- Burlina, Alberto;
- Cleary, Maureen;
- Coşkun, Turgay;
- Feillet, François;
- Muntau, Ania;
- Trefz, Friedrich;
- Spronsen, Francjan;
- Blau, Nenad;
- Giżewska, Maria;
- Bélanger-Quintana, Amaya;
- Coşkun, Turgay;
- Feillet, François;
- Muntau, Ania C;
- Trefz, Friedrich K;
- van Spronsen, Francjan J
Publication type:
journal article
Large Neutral Amino Acid Supplementation Exerts Its Effect through Three Synergistic Mechanisms: Proof of Principle in Phenylketonuria Mice.
Published in:
PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0143833
By:
- 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.
Publication type:
Article
Quantitative multivoxel proton spectroscopy of the brain in developmental delay.
Published in:
Journal of Magnetic Resonance Imaging, 2009, v. 30, n. 4, p. 716, doi. 10.1002/jmri.21909
By:
- Verbruggen, Krijn T.;
- Maurits, Natasha M.;
- Meiners, Linda C.;
- Brouwer, Oebele F.;
- van Spronsen, Francjan J.;
- Sijens, Paul E.
Publication type:
Article
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 270, doi. 10.1038/ejhg.2010.204
By:
- Hoefs, Saskia J. G.;
- van Spronsen, Francjan J.;
- Lenssen, Ellen W. H.;
- Nijtmans, Leo G.;
- Rodenburg, Richard J.;
- Smeitink, Jan A. M.;
- van den Heuvel, Lambert P.
Publication type:
Article
Phenylketonuria: brain phenylalanine concentrations relate inversely to cerebral protein synthesis.
Published in:
Journal of Cerebral Blood Flow & Metabolism, 2015, v. 35, n. 2, p. 200, doi. 10.1038/jcbfm.2014.183
By:
- de Groot, Martijn J;
- Sijens, Paul E;
- Reijngoud, Dirk-Jan;
- Paans, Anne M;
- van Spronsen, Francjan J
Publication type:
Article
Ventricular Fibrillation Without Overt Cardiomyopathy as First Presentation of Organic Cation Transporter 2-Deficiency in Adolescence.
Published in:
Pacing & Clinical Electrophysiology, 2004, v. 27, n. 5, p. 675, doi. 10.1111/j.1540-8159.2004.00507.x
By:
- RIJLAARSDAM, RENSKE S.;
- SPRONSEN, FRANCJAN J. VAN;
- BINK‐BOELKENS, MARGREET TH.E.;
- REIJNGOUD, DIRK‐JAN;
- WANDERS, RONALD J.A.;
- NIEZEN‐KONING, KLARY E.;
- VAN DER SLUIJS, FJODOR H.;
- DORLAND, BERT;
- BEAUFORT‐KROL, GERTIE C.M.
Publication type:
Article
Preventive use of nitisinone in alkaptonuria.
Published in:
2021
By:
- Wolffenbuttel, Bruce H. R.;
- Heiner-Fokkema, M. Rebecca;
- van Spronsen, Francjan J.
Publication type:
Letter
Response to the Letter to the Editor Regarding “Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria”.
Published in:
2018
By:
- 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.
Publication type:
Letter to the Editor
Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.
Published in:
Annals of Nutrition & Metabolism, 2017, v. 70, n. 2, p. 111, doi. 10.1159/000465529
By:
- 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.
Publication type:
Article
Adult Patients with Well-Controlled Phenylketonuria Tolerate Incidental Additional Intake of Phenylalanine.
Published in:
Annals of Nutrition & Metabolism, 2011, v. 58, n. 2, p. 94, doi. 10.1159/000324924
By:
- van Rijn, Margreet;
- Hoeksma, Marieke;
- Sauer, Pieter J. J.;
- Modderman, Pim;
- Reijngoud, Dirk-Jan;
- van Spronsen, Francjan J.
Publication type:
Article
The Use of Prealbumin Concentration as a Biomarker of Nutritional Status in Treated Phenylketonuric Patients.
Published in:
Annals of Nutrition & Metabolism, 2010, v. 56, n. 3, p. 207, doi. 10.1159/000276641
By:
- Rocha, Júlio César;
- Almeida, Manuela Ferreira;
- Carmona, Carla;
- Cardoso, Maria Luís;
- Borges, Nuno;
- Soares, Isabel;
- Salcedo, Graça;
- Lima, Margarida Reis;
- Azevedo, Isabel;
- Van Spronsen, Francjan J.
Publication type:
Article
Dried blood spot versus venous blood sampling for phenylalanine and tyrosine.
Published in:
2020
By:
- 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
Publication type:
journal article
Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system.
Published in:
Annals of Neurology, 2008, v. 63, n. 4, p. 473, doi. 10.1002/ana.21328
By:
- Janssen, Antoon J. M.;
- Schuelke, Markus;
- Smeitink, Jan A. M.;
- Trijbels, Frans J. M.;
- Sengers, Rob C. A.;
- Lucke, Barbara;
- Wintjes, Liesbeth T. M.;
- Morava, Eva;
- van Engelen, Baziel G. M.;
- Smits, Bart W.;
- Hol, Frans A.;
- Siers, Marloes H.;
- Ter Laak, Henk;
- van der Knaap, Marjo S.;
- Van Spronsen, Francjan J.;
- Rodenburg, Richard J. T.;
- van den Heuvel, Lambert P.
Publication type:
Article
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU‐MOMs sub‐registries
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 636, doi. 10.1002/jimd.12724
By:
- Feillet, François;
- Ficicioglu, Can;
- Lagler, Florian B.;
- Longo, Nicola;
- Muntau, Ania C.;
- Burlina, Alberto;
- Trefz, Friedrich K.;
- van Spronsen, Francjan J.;
- Arnoux, Jean‐Baptiste;
- Lindstrom, Kristin;
- Lilienstein, Joshua;
- Clague, Gillian E.;
- Rowell, Richard;
- Burton, Barbara K.
Publication type:
Article
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1124, doi. 10.1002/jimd.12386
By:
- Rossi, Alessandro;
- Hoogeveen, Irene J.;
- Lubout, Charlotte M. A.;
- de Boer, Foekje;
- Fokkert‐Wilts, Marieke J.;
- Rodenburg, Iris L.;
- van Dam, Esther;
- Grünert, Sarah C.;
- Martinelli, Diego;
- Scarpa, Maurizio;
- Dekker, Hanka;
- te Boekhorst, Sebastiaan T.;
- van Spronsen, Francjan J.;
- Derks, Terry G. J.
Publication type:
Article
The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 209, doi. 10.1002/jimd.12065
By:
- Burlina, Alessandro P.;
- Lachmann, Robin H.;
- Manara, Renzo;
- Cazzorla, Chiara;
- Celato, Andrea;
- van Spronsen, Francjan J.;
- Burlina, Alberto
Publication type:
Article
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 929, doi. 10.1007/s10545-018-0167-2
By:
- Hoogeveen, Irene J.;
- Peeks, Fabian;
- de Boer, Foekje;
- Lubout, Charlotte M. A.;
- de Koning, Tom J.;
- te Boekhorst, Sebastiaan;
- Zandvoort, Robert‐Jan;
- Burghard, Rob;
- van Spronsen, Francjan J.;
- Derks, Terry G. J.
Publication type:
Article
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 929, doi. 10.1007/s10545-018-0167-2
By:
- Hoogeveen, Irene J.;
- Peeks, Fabian;
- de Boer, Foekje;
- Lubout, Charlotte M. A.;
- de Koning, Tom J.;
- te Boekhorst, Sebastiaan;
- Zandvoort, Robert-Jan;
- Burghard, Rob;
- van Spronsen, Francjan J.;
- Derks, Terry G. J.
Publication type:
Article
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 641, doi. 10.1007/s10545-017-0086-7
By:
- Stelten, Bianca M. L.;
- Bonnot, Olivier;
- Huidekoper, Hidde H.;
- van Spronsen, Francjan J.;
- van Hasselt, Peter M.;
- Kluijtmans, Leo A. J.;
- Wevers, Ron A.;
- Verrips, Aad
Publication type:
Article
Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. 413, doi. 10.1007/s10545-010-9207-2
By:
- de Groot, Martijn J.;
- Cuppen, Marcel;
- Eling, Marc;
- Verheijen, Frans W.;
- Rings, Edmond H. H. M.;
- Reijngoud, Dirk‐Jan;
- de Vries, Maaike M. C.;
- van Spronsen, Francjan J.
Publication type:
Article
Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. S413, doi. 10.1007/s10545-010-9207-2
By:
- de Groot, Martijn J.;
- Cuppen, Marcel;
- Eling, Marc;
- Verheijen, Frans W.;
- Rings, Edmond H. H. M.;
- Reijngoud, Dirk-Jan;
- de Vries, Maaike M. C.;
- van Spronsen, Francjan J.
Publication type:
Article
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 19, p. 4151, doi. 10.1093/hmg/dds123
By:
- Timal, Sharita;
- Hoischen, Alexander;
- Lehle, Ludwig;
- Adamowicz, Maciej;
- Huijben, Karin;
- Sykut-Cegielska, Jolanta;
- Paprocka, Justyna;
- Jamroz, Ewa;
- van Spronsen, Francjan J.;
- Körner, Christian;
- Gilissen, Christian;
- Rodenburg, Richard J.;
- Eidhof, Ilse;
- Van den Heuvel, Lambert;
- Thiel, Christian;
- Wevers, Ron A.;
- Morava, Eva;
- Veltman, Joris;
- Lefeber, Dirk J.
Publication type:
Article
Hepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3 trifluoro- methylbenzoyl)-1, 3-cyclohexanedione treatment.
Published in:
2005
By:
- van Spronsen, Francjan J.;
- Bijleveld, Charles M. A.;
- van Maldegem, Bianca T.;
- Wijburg, Frits A.
Publication type:
journal article
Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 34, doi. 10.3390/ijns9030034
By:
- Dijkstra, Allysa M.;
- de Blaauw, Pim;
- van Rijt, Willemijn J.;
- Renting, Hanneke;
- Maatman, Ronald G. H. J.;
- van Spronsen, Francjan J.;
- Maase, Rose E.;
- Schielen, Peter C. J. I.;
- Derks, Terry G. J.;
- Heiner-Fokkema, M. Rebecca
Publication type:
Article
A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 66, doi. 10.3390/ijns9040066
By:
- Dijkstra, Allysa M.;
- Evers-van Vliet, Kimber;
- Heiner-Fokkema, M. Rebecca;
- Bodewes, Frank A. J. A.;
- Bos, Dennis K.;
- Zsiros, József;
- van Aerde, Koen J.;
- Koop, Klaas;
- van Spronsen, Francjan J.;
- Lubout, Charlotte M. A.
Publication type:
Article
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.
Published in:
International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 17, doi. 10.3390/ijns8010017
By:
- Veldman, Abigail;
- Kiewiet, Mensiena B. G.;
- Heiner-Fokkema, Margaretha Rebecca;
- Nelen, Marcel R.;
- Sinke, Richard J.;
- Sikkema-Raddatz, Birgit;
- Voorhoeve, Els;
- Westra, Dineke;
- Dollé, Martijn E. T.;
- Schielen, Peter C. J. I.;
- van Spronsen, Francjan J.
Publication type:
Article
A Specific Nutrient Combination Attenuates the Reduced Expression of PSD-95 in the Proximal Dendrites of Hippocampal Cell Body Layers in a Mouse Model of Phenylketonuria.
Published in:
Nutrients, 2016, v. 8, n. 4, p. 185, doi. 10.3390/nu8040185
By:
- Bruinenberg, Vibeke M.;
- van Vliet, Danique;
- Attali, Amos;
- de Wilde, Martijn C.;
- Kuhn, Mirjam;
- van Spronsen, Francjan J.;
- van der Zee, Eddy A.
Publication type:
Article
Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria.
Published in:
Nutrition Research Reviews, 2019, v. 32, n. 1, p. 70, doi. 10.1017/S0954422418000173
By:
- MacDonald, Anita;
- Singh, Rani H.;
- Rocha, Júlio César;
- van Spronsen, Francjan J.
Publication type:
Article
Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU).
Published in:
PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0213391
By:
- Bruinenberg, Vibeke M.;
- van Vliet, Danique;
- van der Goot, Els;
- Counotte, Danielle S.;
- Kuhn, Mirjam;
- van Spronsen, Francjan J.;
- van der Zee, Eddy A.
Publication type:
Article
The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background.
Published in:
Frontiers in Behavioral Neuroscience, 2016, v. 10, p. 1, doi. 10.3389/fnbeh.2016.00233
By:
- Bruinenberg, Vibeke M.;
- van der Goot, Els;
- van Vliet, Danique;
- de Groot, Martijn J.;
- Mazzola, Priscila N.;
- Heiner-Fokkema, M. Rebecca;
- van Faassen, Martijn;
- van Spronsen, Francjan J.;
- van der Zee, Eddy A.
Publication type:
Article

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