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

Por Timmers, Inge, Jansma, Bernadette M., Rubio-Gozalbo, M. Estela
Publicado em 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 em 2013

Revised Proposal for the Prevention of Low Bone Mass in Patients with Classic Galactosemia

Por van Erven, Britt, Römers, Myrna M. M., Rubio-Gozalbo, M. Estela
Publicado no JIMD Rep (2014)

Sweet and sour: an update on classic galactosemia

Por Coelho, Ana I., Rubio-Gozalbo, M. Estela, Vicente, João B., Rivera, Isabel
Publicado no J Inherit Metab Dis (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 no Sci Rep (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 no J Inherit Metab Dis (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 em 2011

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 no J Inherit Metab Dis (2017)

IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia

Por Stockmann, Henning, Coss, Karen P., Rubio-Gozalbo, M. Estela, Knerr, Ina, Fitzgibbon, Maria, Maratha, Ashwini, Wilson, James, Rudd, Pauline, Treacy, Eileen P.
Publicado no JIMD Rep (2015)

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 em 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 em 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 no J Inherit Metab Dis (2018)

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)

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

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 no J Inherit Metab Dis (2017)

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

Por van Erven, Britt, Welling, Lindsey, van Calcar, Sandra C., Doulgeraki, Artemis, Eyskens, François, Gribben, Joanna, Treacy, Eileen P., Vos, Rein, Waisbren, Susan E., Rubio-Gozalbo, M. Estela, Bosch, Annet M.
Publicado no JIMD Rep (2016)

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

Por Demirdas, Serwet, van Spronsen, Francjan J., Hollak, Carla E.M., van der Lee, J. Hanneke, Bisschop, Peter H., Vaz, Fred M., ter Horst, Nienke M., Rubio-Gozalbo, M. Estela, Bosch, Annet M.
Publicado no Ann Nutr Metab (2017)

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 em 2010

Fertility preservation in female classic galactosemia patients

Por van Erven, Britt, Gubbels, Cynthia S, van Golde, Ron J, Dunselman, Gerard A, Derhaag, Josien G, de Wert, Guido, Geraedts, Joep P, Bosch, Annet M, Treacy, Eileen P, Welt, Corrine K, Berry, Gerard T, Rubio-Gozalbo, M Estela
Publicado em 2013