Mild hyperphenylalaninemia: to treat or not to treat

Por van Spronsen, Francjan J.
Publicado em 2011

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 em 2010

Phenylketonuria: brain phenylalanine concentrations relate inversely to cerebral protein synthesis

Por de Groot, Martijn J, Sijens, Paul E, Reijngoud, Dirk-Jan, Paans, Anne M, van Spronsen, Francjan J
Publicado no J Cereb Blood Flow Metab (2015)

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 em 2011

The Ketogenic Diet Is Well Tolerated and Can Be Effective in Patients with Argininosuccinate Lyase Deficiency and Refractory Epilepsy

Por Peuscher, Rosanne, Dijsselhof, Monique E., Abeling, Nico G., Van Rijn, Margreet, Van Spronsen, Francjan J., Bosch, Annet M.
Publicado em 2011

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 no Eur J Pediatr (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 no Front Neurol (2017)

Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles

Por Heiner-Fokkema, M. Rebecca, Vaz, Frédéric M., Maatman, Ronald, Kluijtmans, Leo A. J., van Spronsen, Francjan J., Reijngoud, Dirk-Jan
Publicado no JIMD Rep (2016)

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 em 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 no Nutrients (2016)

Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease

Por Hoogeveen, Irene J., van der Ende, Rixt M., van Spronsen, Francjan J., de Boer, Foekje, Heiner-Fokkema, M. Rebecca, Derks, Terry G. J.
Publicado no JIMD Rep (2015)

Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice

Por Mazzola, Priscila Nicolao, Bruinenberg, Vibeke, Anjema, Karen, van Vliet, Danique, Dutra-Filho, Carlos Severo, van Spronsen, Francjan J., van der Zee, Eddy A.
Publicado no JIMD Rep (2015)

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 em 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 em 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 no PLoS One (2017)

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

Por 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
Publicado em 2011

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

Por 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.
Publicado no Orphanet J Rare Dis (2016)

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life

Por ten Hoedt, Amber E., Maurice-Stam, Heleen, Boelen, Carolien C. A., Rubio-Gozalbo, M. Estela, van Spronsen, Francjan J., Wijburg, Frits A., Bosch, Annet M., Grootenhuis, Martha A.
Publicado em 2011

Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I

Por 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.
Publicado em 2010

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

Por Giżewska, Maria, MacDonald, Anita, Bélanger-Quintana, Amaya, Burlina, Alberto, Cleary, Maureen, Coşkun, Turgay, Feillet, François, Muntau, Ania C., Trefz, Friedrich K., van Spronsen, Francjan J., Blau, Nenad
Publicado no Eur J Pediatr (2015)