Current and Future Treatments for Classic Galactosemia

by Britt Delnoy, Ana I. Coelho, M. Estela Rubio-Gozalbo
Published 2021-01-01

From mind to mouth: event related potentials of sentence production in classic galactosemia.

by Inge Timmers, Bernadette M Jansma, M Estela Rubio-Gozalbo
Published 2012-01-01

Temporal characteristics of online syntactic sentence planning: an event-related potential study.

by Inge Timmers, Francesco Gentile, M Estela Rubio-Gozalbo, Bernadette M Jansma
Published 2013-01-01

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

by Britt van Erven, Bernadette M. Jansma, M. Estela Rubio-Gozalbo, Inge Timmers
Published 2017-08-01

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

by Willem G van Ginkel, Danique van Vliet, Johannes G M Burgerhof, Pim de Blaauw, M Estela Rubio Gozalbo, M Rebecca Heiner-Fokkema, Francjan J van Spronsen
Published 2017-01-01

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

by Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen, Annet M. Bosch
Published 2020-02-01

Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

by Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen, Annet M. Bosch
Published 2020-09-01

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

by Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau, M. Estela Rubio-Gozalbo, Ana I. Coelho
Published 2018-11-01