From Mind to Mouth: Event Related Potentials of Sentence Production in Classic Galactosemia

por Timmers, Inge, Jansma, Bernadette M., Rubio-Gozalbo, M. Estela
Publicado 2012

Temporal Characteristics of Online Syntactic Sentence Planning: An Event-Related Potential Study

por Timmers, Inge, Gentile, Francesco, Rubio-Gozalbo, M. Estela, Jansma, Bernadette M.
Publicado 2013

Sweet and sour: an update on classic galactosemia

por Coelho, Ana I., Rubio-Gozalbo, M. Estela, Vicente, João B., Rivera, Isabel
Publicado 2017

Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia

por van Erven, Britt, Jansma, Bernadette M., Rubio-Gozalbo, M. Estela, Timmers, Inge
Publicado 2017

White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging

por Timmers, Inge, Zhang, Hui, Bastiani, Matteo, Jansma, Bernadette M., Roebroeck, Alard, Rubio-Gozalbo, M. Estela
Publicado 2014

Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions

por Timmers, Inge, van den Hurk, Job, Di Salle, Francesco, Rubio-Gozalbo, M. Estela, Jansma, Bernadette M.
Publicado 2011

Development of tools to facilitate the diagnosis of hereditary fructose intolerance

por Panis, Bianca, Janssen, Lise E. F., Lefeber, Dirk J., Simons, Nynke, Rubio‐Gozalbo, M. Estela, Brouwers, Martijn C. G. J.
Publicado 2023

Impaired fertility and motor function in a zebrafish model for classic galactosemia

por Vanoevelen, Jo M., van Erven, Britt, Bierau, Jörgen, Huang, Xiaoping, Berry, Gerard T., Vos, Rein, Coelho, Ana I., Rubio-Gozalbo, M. Estela
Publicado 2017

The challenges of classical galactosemia: HRQoL in pediatric and adult patients

por Hermans, Merel E., van Oers, Hedy A., Geurtsen, Gert J., Haverman, Lotte, Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Bosch, Annet M.
Publicado 2023

FSH isoform pattern in classic galactosemia

por Gubbels, Cynthia S., Thomas, Chris M. G., Wodzig, Will K. W. H., Olthaar, André J., Jaeken, Jaak, Sweep, Fred C. G. J., Rubio-Gozalbo, M. Estela
Publicado 2010

Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion

por Gubbels, Cynthia S., Land, Jolande A., Evers, Johannes L. H., Bierau, Jörgen, Menheere, Paul P. C. A., Robben, Simon G. F., Rubio-Gozalbo, M. Estela
Publicado 2012

Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects

por Haskovic, M., Poot, W. J., van Golde, R. J. T., Benneheij, S. H., Oussoren, E., de Wert, G. M. W. R., Krumeich, A., Rubio-Gozalbo, M. Estela
Publicado 2018

Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish

por Haskovic, Minela, Coelho, Ana I., Lindhout, Martijn, Zijlstra, Fokje, Veizaj, Raisa, Vos, Rein, Vanoevelen, Jo M., Bierau, Jörgen, Lefeber, Dirk J., Rubio‐Gozalbo, M. Estela
Publicado 2020

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

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 2016

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models

por Haskovic, Minela, Coelho, Ana I., Bierau, Jörgen, Vanoevelen, Jo M., Steinbusch, Laura K. M., Zimmermann, Luc J. I., Villamor‐Martinez, Eduardo, Berry, Gerard T., Rubio‐Gozalbo, M. Estela
Publicado 2020

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 2011

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control

por Peeks, Fabian, Steunenberg, Thomas A. H., de Boer, Foekje, Rubio-Gozalbo, M. Estela, Williams, Monique, Burghard, Rob, Rajas, Fabienne, Oosterveer, Maaike H., Weinstein, David A., Derks, Terry G. J.
Publicado 2017

The hypergonadotropic hypogonadism conundrum of classic galactosemia

por Derks, Britt, Rivera-Cruz, Greysha, Hagen-Lillevik, Synneva, Vos, E Naomi, Demirbas, Didem, Lai, Kent, Treacy, Eileen P, Levy, Harvey L, Wilkins-Haug, Louise E, Rubio-Gozalbo, M Estela, Berry, Gerard T
Publicado 2022

High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial

por ten Hoedt, Amber E., de Sonneville, Leo M. J., Francois, Baudouin, ter Horst, Nienke M., Janssen, Mirian C. H., Rubio-Gozalbo, M. Estela, Wijburg, Frits A., Hollak, Carla E. M., Bosch, Annet M.
Publicado 2010