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A post hoc study on gene panel analysis for the diagnosis of dystonia.
Published in:
2017
By:
- van Egmond, Martje E.;
- Lugtenberg, Coen H.A.;
- Brouwer, Oebele F.;
- Contarino, Maria Fiorella;
- Fung, Victor S.C.;
- Heiner ‐ Fokkema, M. Rebecca;
- van Hilten, Jacobus J.;
- van der Hout, Annemarie H.;
- Peall, Kathryn J.;
- Sinke, Richard J.;
- Roze, Emmanuel;
- Verschuuren ‐ Bemelmans, Corien C.;
- Willemsen, Michel A.;
- Wolf, Nicole I.;
- Tijssen, Marina A.;
- de Koning, Tom J.;
- Heiner-Fokkema, M Rebecca;
- Verschuuren-Bemelmans, Corien C
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
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
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
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
Urinary Excretion of N1-methyl-2-pyridone-5-carboxamide and N1-methylnicotinamide in Renal Transplant Recipients and Donors.
Published in:
Journal of Clinical Medicine, 2020, v. 9, n. 2, p. 437, doi. 10.3390/jcm9020437
By:
- Deen, Carolien P. J.;
- van der Veen, Anna;
- Gomes-Neto, António W.;
- Geleijnse, Johanna M.;
- Borgonjen-van den Berg, Karin J.;
- Heiner-Fokkema, M. Rebecca;
- Kema, Ido P.;
- Bakker, Stephan J. L.
Publication type:
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
Effects of magnesium citrate, magnesium oxide and magnesium sulfate supplementation on arterial stiffness in healthy overweight individuals: a study protocol for a randomized controlled trial.
Published in:
2019
By:
- Schutten, Joëlle C.;
- Joris, Peter J.;
- Mensink, Ronald P.;
- Danel, Richard M.;
- Goorman, Frans;
- Heiner-Fokkema, M. Rebecca;
- Weersma, Rinse K.;
- Keyzer, Charlotte A.;
- de Borst, Martin H.;
- Bakker, Stephan J. L.
Publication type:
journal article
Methylmalonic acid, vitamin B12, renal function, and risk of all-cause mortality in the general population: results from the prospective Lifelines-MINUTHE study.
Published in:
2020
By:
- Riphagen, Ineke J.;
- Minović, Isidor;
- Groothof, Dion;
- Post, Adrian;
- Eggersdorfer, Manfred L.;
- Kootstra-Ros, Jenny E.;
- de Borst, Martin H.;
- Navis, Gerjan;
- Muskiet, Frits A. J.;
- Kema, Ido P.;
- Heiner-Fokkema, M. Rebecca;
- Bakker, Stephan J. L.
Publication type:
journal article
Relationship between serum B12 concentrations and mortality: experience in NHANES.
Published in:
2020
By:
- Wolffenbuttel, Bruce H. R.;
- Heiner-Fokkema, M. Rebecca;
- Green, Ralph;
- Gans, Rijk O. B.
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
Urinary sulfate excretion and risk of late graft failure in renal transplant recipients – a prospective cohort study.
Published in:
Transplant International, 2020, v. 33, n. 7, p. 752, doi. 10.1111/tri.13600
By:
- Said, M. Yusof;
- Post, Adrian;
- Minović, Isidor;
- Londen, Marco;
- Goor, Harry;
- Postmus, Douwe;
- Heiner‐Fokkema, M. Rebecca;
- Berg, Else;
- Pasch, Andreas;
- Navis, Gerjan;
- Bakker, Stephan J. L.
Publication type:
Article
Creatine homeostasis and the kidney: comparison between kidney transplant recipients and healthy controls.
Published in:
Amino Acids, 2024, v. 56, n. 1, p. 1, doi. 10.1007/s00726-024-03401-w
By:
- Post, Adrian;
- Groothof, Dion;
- Kremer, Daan;
- Knobbe, Tim J.;
- Abma, Willem;
- Koops, Christa A.;
- Tsikas, Dimitrios;
- Wallimann, Theo;
- Dullaart, Robin P.F.;
- Franssen, Casper F.M.;
- Kema, Ido P.;
- Heiner-Fokkema, M. Rebecca;
- Bakker, Stephan J.L.
Publication type:
Article
Effect of renal function on homeostasis of asymmetric dimethylarginine (ADMA): studies in donors and recipients of renal transplants.
Published in:
Amino Acids, 2019, v. 51, n. 3, p. 565, doi. 10.1007/s00726-018-02693-z
By:
- Said, M. Yusof;
- Douwes, Rianne M.;
- van Londen, Marco;
- Minović, Isidor;
- Frenay, Anne-Roos;
- de Borst, Martin H.;
- van den Berg, Else;
- Heiner-Fokkema, M. Rebecca;
- Kayacelebi, Arslan Arinc;
- Bollenbach, Alexander;
- van Goor, Harry;
- Navis, Gerjan;
- Tsikas, Dimitrios;
- Bakker, Stephan J. L.
Publication type:
Article
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns.
Published in:
Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 57, doi. 10.1002/jmd2.12334
By:
- Crefcoeur, Loek L.;
- Heiner‐Fokkema, M. Rebecca;
- Maase, Rose E.;
- Visser, Gepke;
- de Sain‐van der Velden, Monique G. M.
Publication type:
Article
Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 70, doi. 10.1002/jmd2.12186
By:
- Coene, Karlien L. M.;
- Timmer, Corrie;
- Goorden, Susan M. I.;
- Hoedt, Amber E.;
- Kluijtmans, Leo A. J.;
- Janssen, Mirian C. H.;
- Rennings, Alexander J. M.;
- Prinsen, Hubertus C. M. T.;
- Wamelink, Mirjam M. C.;
- Ruijter, George J. G.;
- Körver‐Keularts, Irene M. L. W.;
- Heiner‐Fokkema, M. Rebecca;
- Spronsen, Francjan J.;
- Hollak, Carla E.;
- Vaz, Frédéric M.;
- Bosch, Annet M.;
- Huigen, Marleen C. D. G.
Publication type:
Article
Inter‐laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 90, doi. 10.1002/jmd2.12112
By:
- Laeremans, Hilde;
- Turner, Charles;
- Andersson, Tommy;
- Juan, Jose Angel Cocho;
- Gerrard, Adam;
- Heiner‐Fokkema, M. Rebecca;
- Herebian, Diran;
- Janzen, Nils;
- Marca, Giancarlo;
- Rudebeck, Mattias
Publication type:
Article
Screening for metabolic vitamin B<sub>12</sub> deficiency by holotranscobalamin in patients suspected of vitamin B<sub>12</sub> deficiency: a multicentre study.
Published in:
Annals of Clinical Biochemistry, 2012, v. 49, n. 2, p. 184, doi. 10.1258/acb.2011.011039
By:
- Heil, Sandra G.;
- de Jonge, Robert;
- de Rotte, Maurits C. F. J.;
- van Wijnen, Merel;
- Heiner-Fokkema, Rebecca M. R.;
- Muller Kobold, Anneke C.;
- Pekelharing, J. Maurits M.;
- Adriaansen, Henk J.;
- Sanders, Edward;
- Trienekens, Paul H.;
- Rammeloo, Ton;
- Lindemans, Jan
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
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
Creatine homeostasis and protein energy wasting in hemodialysis patients.
Published in:
2021
By:
- Post, Adrian;
- Schutten, Joëlle C.;
- Kremer, Daan;
- van der Veen, Yvonne;
- Groothof, Dion;
- Sotomayor, Camilo G.;
- Koops, Christa A.;
- de Blaauw, Pim;
- Kema, Ido P.;
- Westerhuis, Ralf;
- Wallimann, Theo;
- Heiner-Fokkema, M. Rebecca;
- Bakker, Stephan J. L.;
- Franssen, Casper F. M.
Publication type:
journal article
Plasma carnitine concentrations in Medium‐chain acyl‐CoA dehydrogenase deficiency: lessons from an observational cohort study.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1118, doi. 10.1002/jimd.12537
By:
- Jager, Emmalie A.;
- Schaafsma, Merit;
- van der Klauw, Melanie. M.;
- Heiner‐Fokkema, M. Rebecca;
- Derks, Terry G. J.
Publication type:
Article
Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype‐specific: An investigator‐initiated, randomized, crossover study.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 226, doi. 10.1002/jimd.12302
By:
- Hoogeveen, Irene J.;
- Boer, Foekje;
- Boonstra, Willemijn F.;
- Schaaf, Caroline J.;
- Steuerwald, Ulrike;
- Sibeijn‐Kuiper, Anita J.;
- Vegter, Riemer J. K.;
- Hoeven, Johannes H.;
- Heiner‐Fokkema, M. Rebecca;
- Clarke, Kieran C.;
- Cox, Pete J.;
- Derks, Terry G. J.;
- Jeneson, Jeroen A. L.
Publication type:
Article
Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 181, doi. 10.1007/s10545-017-0112-9
By:
- Kienstra, Nienke S.;
- Reemst, Hannah E.;
- Ginkel, Willem G.;
- Daly, Anne;
- Dam, Esther;
- MacDonald, Anita;
- Burgerhof, Johannes G. M.;
- Blaauw, Pim;
- McKiernan, Patrick J.;
- Heiner-Fokkema, M. Rebecca;
- Spronsen, Francjan J.
Publication type:
Article
Urinary Carnosinase-1 Excretion is Associated with Urinary Carnosine Depletion and Risk of Graft Failure in Kidney Transplant Recipients: Results of the TransplantLines Cohort Study.
Published in:
Antioxidants, 2021, v. 10, n. 7, p. 1102, doi. 10.3390/antiox10071102
By:
- Rodriguez-Niño, Angelica;
- Pastene, Diego O.;
- Post, Adrian;
- Said, M. Yusof;
- Gomes-Neto, Antonio W.;
- Kieneker, Lyanne M.;
- Heiner-Fokkema, M. Rebecca;
- Esatbeyoglu, Tuba;
- Rimbach, Gerald;
- Schnuelle, Peter;
- Yard, Benito A.;
- Bakker, Stephan J. L.
Publication type:
Article
A toolbox for the comprehensive analysis of small volume human intestinal samples that can be used with gastrointestinal sampling capsules.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-86980-y
By:
- Rios-Morales, Melany;
- van Trijp, Mara P. H.;
- Rösch, Christiane;
- An, Ran;
- Boer, Theo;
- Gerding, Albert;
- de Ruiter, Naomi;
- Koehorst, Martijn;
- Heiner-Fokkema, M. Rebecca;
- Schols, Henk A.;
- Reijngoud, Dirk-Jan;
- Hooiveld, Guido J. E. J.;
- Bakker, Barbara M.
Publication type:
Article
Types of fish consumption differ across socioeconomic strata and impact differently on plasma fish-based omega-3 fatty acids: a cross-sectional study.
Published in:
European Journal of Nutrition, 2024, v. 63, n. 2, p. 435, doi. 10.1007/s00394-023-03274-x
By:
- Zhu, Yinjie;
- Mierau, Jochen O.;
- Riphagen, Ineke J.;
- Heiner-Fokkema, M. Rebecca;
- Dekker, Louise H.;
- Navis, Gerjan J.;
- Bakker, Stephan J. L.
Publication type:
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
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Published in:
International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 20, doi. 10.3390/ijns10010020
By:
- Kiewiet, Gea;
- Westra, Dineke;
- de Boer, Eddy N.;
- van Berkel, Emma;
- Hofste, Tom G. J.;
- van Zweeden, Martine;
- Derks, Ronny C.;
- Leijsten, Nico F. A.;
- Ruiterkamp-Versteeg, Martina H. A.;
- Charbon, Bart;
- Johansson, Lennart;
- Bos-Kruizinga, Janneke;
- Veenstra, Inge J.;
- de Sain-van der Velden, Monique G. M.;
- Voorhoeve, Els;
- Heiner-Fokkema, M. Rebecca;
- van Spronsen, Francjan;
- Sikkema-Raddatz, Birgit;
- Nelen, Marcel
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
One- vs two-phase extraction: re-evaluation of sample preparation procedures for untargeted lipidomics in plasma samples.
Published in:
Analytical & Bioanalytical Chemistry, 2018, v. 410, n. 23, p. 5859, doi. 10.1007/s00216-018-1200-x
By:
- Gil, Andres;
- Zhang, Wenxuan;
- Wolters, Justina C.;
- Permentier, Hjalmar;
- Boer, Theo;
- Horvatovich, Peter;
- Heiner-Fokkema, M. Rebecca;
- Reijngoud, Dirk-Jan;
- Bischoff, Rainer
Publication type:
Article
Gut microbiome dysbiosis is associated with increased mortality after solid organ transplantation.
Published in:
Science Translational Medicine, 2022, v. 14, n. 660, p. 1, doi. 10.1126/scitranslmed.abn7566
By:
- Swarte, J. Casper;
- Li, Yanni;
- Hu, Shixian;
- Björk, Johannes R.;
- Gacesa, Ranko;
- Vich Vila, Arnau;
- Douwes, Rianne M.;
- Collij, Valerie;
- Kurilshikov, Alexander;
- Post, Adrian;
- Klaassen, Marjolein A. Y.;
- Eisenga, Michele F.;
- Gomes-Neto, António W.;
- Kremer, Daan;
- Jansen, Bernadien H.;
- Knobbe, Tim J.;
- Berger, Stefan P.;
- Sanders, Jan-Stephan F.;
- Heiner-Fokkema, M. Rebecca;
- Porte, Robert J.
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
Advanced glycation end-products, a pathophysiological pathway in the cardiorenal syndrome.
Published in:
2012
By:
- Willemsen S;
- Hartog JW;
- Heiner-Fokkema MR;
- van Veldhuisen DJ;
- Voors AA;
- Willemsen, Suzan;
- Hartog, Jasper W L;
- Heiner-Fokkema, M Rebecca;
- van Veldhuisen, Dirk J;
- Voors, Adriaan A
Publication type:
journal article
Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.
Published in:
Pediatric Drugs, 2019, v. 21, n. 6, p. 413, doi. 10.1007/s40272-019-00364-4
By:
- van Ginkel, Willem G.;
- Rodenburg, Iris L.;
- Harding, Cary O.;
- Hollak, Carla E. M.;
- Heiner-Fokkema, M. Rebecca;
- van Spronsen, Francjan J.
Publication type:
Article
Amino Acid Homeostasis and Fatigue in Chronic Hemodialysis Patients.
Published in:
Nutrients, 2022, v. 14, n. 14, p. N.PAG, doi. 10.3390/nu14142810
By:
- Post, Adrian;
- Kremer, Daan;
- Groothof, Dion;
- van der Veen, Yvonne;
- de Blaauw, Pim;
- van der Krogt, Jennifer;
- Kema, Ido P.;
- Westerhuis, Ralf;
- Heiner-Fokkema, M. Rebecca;
- Bakker, Stephan J. L.;
- Franssen, Casper F. M.
Publication type:
Article
Urinary Excretion of N1-Methylnicotinamide and N1-Methyl-2-Pyridone-5-Carboxamide and Mortality in Kidney Transplant Recipients.
Published in:
Nutrients, 2020, v. 12, n. 7, p. 2059, doi. 10.3390/nu12072059
By:
- Deen, Carolien P.J.;
- van der Veen, Anna;
- Gomes-Neto, António W.;
- Geleijnse, Johanna M.;
- Borgonjen-van den Berg, Karin J.;
- Heiner-Fokkema, M. Rebecca;
- Kema, Ido P.;
- Bakker, Stephan J.L.
Publication type:
Article
Aspartame and Phe-Containing Degradation Products in Soft Drinks across Europe.
Published in:
Nutrients, 2020, v. 12, n. 6, p. 1887, doi. 10.3390/nu12061887
By:
- van Vliet, Kimber;
- Melis, Elise S.;
- de Blaauw, Pim;
- van Dam, Esther;
- Maatman, Ronald G. H. J.;
- Abeln, David;
- van Spronsen, Francjan J.;
- Heiner-Fokkema, M. Rebecca
Publication type:
Article
The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients.
Published in:
Nutrients, 2019, v. 11, n. 11, p. 2816, doi. 10.3390/nu11112816
By:
- van Ginkel, Willem G.;
- van Reemst, Hannah E.;
- Kienstra, Nienke S.;
- Daly, Anne;
- Rodenburg, Iris L.;
- MacDonald, Anita;
- Burgerhof, Johannes G.M.;
- de Blaauw, Pim;
- van de Krogt, Jennifer;
- Santra, Saikat;
- Heiner-Fokkema, M. Rebecca;
- van Spronsen, Francjan J.
Publication type:
Article
Blood and Brain Biochemistry and Behaviour in NTBC and Dietary Treated Tyrosinemia Type 1 Mice.
Published in:
Nutrients, 2019, v. 11, n. 10, p. 2486, doi. 10.3390/nu11102486
By:
- van Ginkel, Willem G.;
- van Vliet, Danique;
- van der Goot, Els;
- Faassen, Martijn H. J. R.;
- Vogel, Arndt;
- Heiner-Fokkema, M. Rebecca;
- van der Zee, Eddy. A.;
- van Spronsen, Francjan J.
Publication type:
Article
The Benefit of Large Neutral Amino Acid Supplementation to a Liberalized Phenylalanine-Restricted Diet in Adult Phenylketonuria Patients: Evidence from Adult Pah-Enu2 Mice.
Published in:
Nutrients, 2019, v. 11, n. 9, p. 2252, doi. 10.3390/nu11092252
By:
- van Vliet, Danique;
- van der Goot, Els;
- van Ginkel, Wiggert G.;
- van Faassen, Martijn H. J. R.;
- de Blaauw, Pim;
- Kema, Ido P.;
- Martinez, Aurora;
- Heiner-Fokkema, M. Rebecca;
- van der Zee, Eddy A.;
- van Spronsen, Francjan J.
Publication type:
Article
Urinary Taurine Excretion and Risk of Late Graft Failure in Renal Transplant Recipients.
Published in:
Nutrients, 2019, v. 11, n. 9, p. 2212, doi. 10.3390/nu11092212
By:
- Post, Adrian;
- Said, M. Yusof;
- Gomes-Neto, Antonio W.;
- van der Krogt, Jennifer;
- de Blaauw, Pim;
- Berger, Stefan P.;
- Geleijnse, Johanna M.;
- Borgonjen, Karin;
- van den Berg, Else;
- van Goor, Harry;
- Rimbach, Gerald;
- Kema, Ido P.;
- Tsikas, Dimitrios;
- Heiner-Fokkema, M. Rebecca;
- Bakker, Stephan J. L.
Publication type:
Article
Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients.
Published in:
Nutrients, 2019, v. 11, n. 9, p. 2011, doi. 10.3390/nu11092011
By:
- van Vliet, Kimber;
- Rodenburg, Iris L.;
- van Ginkel, Willem G.;
- Lubout, Charlotte M.A.;
- Wolffenbuttel, Bruce H.R.;
- van der Klauw, Melanie M.;
- Heiner-Fokkema, M. Rebecca;
- van Spronsen, Francjan J.
Publication type:
Article
Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1.
Published in:
PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0185342
By:
- 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.
Publication type:
Article

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