Large Neutral Amino Acid Supplementation Exerts Its Effect through Three Synergistic Mechanisms: Proof of Principle in Phenylketonuria Mice

Danique van Vliet, Vibeke M. Bruinenberg, Priscila Nicolao Mazzola, +7

PLoS ONE

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

Francjan J. van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht, +12

Journal of Medical Genetics

Therapeutic brain modulation with targeted large neutral amino acid supplements in the Pah-enu2 phenylketonuria mouse model

Danique van Vliet, Vibeke M. Bruinenberg, Priscila Nicolao Mazzola, +8

American Journal of Clinical Nutrition

MedicineNeurochemical BiomarkersNeuroscienceTherapeutic Brain ModulationPharmacology +2

Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria

Erik Boot, Carla E. M. Hollak, Stephan C. J. Huijbregts, +12

Psychological Medicine

Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

Danique van Vliet, Esther van Dam, Margreet van Rijn, +6

JIMD Reports

The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background

Vibeke M. Bruinenberg, Els van der Goot, Danique van Vliet, +6

Frontiers in Behavioral Neuroscience

Behavioral NeuroscienceMedicineGeneticsPhysiologyInherited Metabolic Disease +12

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, +17

Nutrients

NeuropsychologyDisabilityNeuropsychiatryNeurochemical BiomarkersDevelopmental Disabilities +17

BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations

Danique van Vliet, Karen Anjema, Rianne Jahja, +7

Molecular Genetics and Metabolism

Bh4 TreatmentBh4-responsive Pku PatientsMedicineNeuropharmacologyNeurology +4

Large neutral amino acid supplementation as an alternative to the phenylalanine-restricted diet in adults with phenylketonuria: evidence from adult Pah-enu2 mice

Danique van Vliet, Els van der Goot, Vibeke M. Bruinenberg, +6

The Journal of Nutritional Biochemistry

NutritionUrologyNutrient PhysiologyAnimal NutritionMedicine +8

Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse

Allysa M. Dijkstra, Ninke van Vliet, Danique van Vliet, +8

Molecular Genetics and Metabolism