Mild hyperphenylalaninemia: to treat or not to treat

por van Spronsen, Francjan J.
Publicado 2011

Preventive use of nitisinone in alkaptonuria

por Wolffenbuttel, Bruce H. R., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J.
Publicado 2021

Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria

por MacDonald, Anita, Singh, Rani H., Rocha, Júlio César, van Spronsen, Francjan J.
Publicado 2018

Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity

por Beck, Bodo B., van Spronsen, FrancJan, Diepstra, Arjan, Berger, Rolf M. F., Kömhoff, Martin
Publicado 2016

Large neutral amino acids in the treatment of PKU: from theory to practice

por van Spronsen, Francjan J., de Groot, Martijn J., Hoeksma, Marieke, Reijngoud, Dirk-Jan, van Rijn, Margreet
Publicado 2010

A Microbial Community Ecology Perspective on the Gut-Microbiome-Brain Axis

por van der Goot, Els, van Spronsen, Francjan J., Falcão Salles, Joana, van der Zee, Eddy A.
Publicado 2020

Pre-attentive processing in children with early and continuously-treated PKU. Effects of concurrent Phe level and lifetime dietary control

por de Sonneville, Leo M. J., Huijbregts, Stephan C. J., Licht, Robert, Sergeant, Joseph A., van Spronsen, Francjan J.
Publicado 2011

Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective

por Haitjema, Sietske, Lubout, Charlotte M. A., Zijlstra, Justine H. M., Wolffenbuttel, Bruce H. R., van Spronsen, Francjan J.
Publicado 2022

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients

por Vester, Marloes E.M., Visser, Gepke, Wijburg, Frits A., van Spronsen, Francjan J., Williams, Monique, van Rijn, Rick R.
Publicado 2016

Sleep Disturbances in Phenylketonuria: An Explorative Study in Men and Mice

por Bruinenberg, Vibeke M., Gordijn, Marijke C. M., MacDonald, Anita, van Spronsen, Francjan J., Van der Zee, Eddy A.
Publicado 2017

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1

por van Ginkel, Willem G., Rodenburg, Iris L., Harding, Cary O., Hollak, Carla E. M., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J.
Publicado 2019

Gut-Microbiome Composition in Response to Phenylketonuria Depends on Dietary Phenylalanine in BTBR Pah(enu2) Mice

por van der Goot, Els, Vink, Stefanie N., van Vliet, Danique, van Spronsen, Francjan J., Falcao Salles, Joana, van der Zee, Eddy A.
Publicado 2022

Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?

por Evers, Roeland A. F., van Wegberg, Annemiek M. J., MacDonald, Anita, Huijbregts, Stephan C. J., Leuzzi, Vincenzo, van Spronsen, Francjan J.
Publicado 2022

Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis

por de Groot, Martijn J, Hoeksma, Marieke, Reijngoud, Dirk-Jan, de Valk, Harold W, Paans, Anne MJ, Sauer, Pieter JJ, van Spronsen, Francjan J
Publicado 2013

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

por Bruinenberg, Vibeke M., van Vliet, Danique, Attali, Amos, de Wilde, Martijn C., Kuhn, Mirjam, van Spronsen, Francjan J., van der Zee, Eddy A.
Publicado 2016

Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU)

por Bruinenberg, Vibeke M., van Vliet, Danique, van der Goot, Els, Counotte, Danielle S., Kuhn, Mirjam, van Spronsen, Francjan J., van der Zee, Eddy A.
Publicado 2019

The Effect of Glycomacropeptide versus Amino Acids on Phenylalanine and Tyrosine Variability over 24 Hours in Children with PKU: A Randomized Controlled Trial

por Daly, Anne, Evans, Sharon, Chahal, Satnam, Santra, Saikat, Pinto, Alex, Gingell, Cerys, Rocha, Júlio César, van Spronsen, Francjan, Jackson, Richard, MacDonald, Anita
Publicado 2019

Single amino acid supplementation in aminoacidopathies: a systematic review

por van Vliet, Danique, Derks, Terry GJ, van Rijn, Margreet, de Groot, Martijn J, MacDonald, Anita, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan J
Publicado 2014

Clinical pathways for inborn errors of metabolism: warranted and feasible

por 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
Publicado 2013

Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1

por 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.
Publicado 2017