Current and Future Treatments for Classic Galactosemia

by Britt Delnoy, Ana I. Coelho, Maria 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

Assessing Microstructural Substrates of White Matter Abnormalities: A Comparative Study Using DTI and NODDI.

by Inge Timmers, Alard Roebroeck, Matteo Bastiani, Bernadette Jansma, Estela Rubio-Gozalbo, Hui Zhang
Published 2016-01-01

[13C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis

by Can Ficicioglu, Didem Demirbas, Britt Derks, G. Shashidhar Pai, David J. Timson, Maria Estela Rubio‐Gozalbo, Gerard T. Berry
Published 2021-05-01

Development of tools to facilitate the diagnosis of hereditary fructose intolerance

by Bianca Panis, Lise E. F. Janssen, Dirk J. Lefeber, Nynke Simons, M. Estela Rubio‐Gozalbo, Martijn C. G. J. Brouwers
Published 2023-09-01

Hip Morphology in Mucolipidosis Type II

by Luise Sophie Ammer, Esmeralda Oussoren, Nicole Maria Muschol, Sandra Pohl, Maria Estela Rubio-Gozalbo, René Santer, Ralf Stuecker, Eik Vettorazzi, Sandra Rafaela Breyer
Published 2020-03-01

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

by Merel E. Hermans, Hedy A. van Oers, Gert J. Geurtsen, Lotte Haverman, Carla E. M. Hollak, M. Estela Rubio-Gozalbo, Annet M. Bosch
Published 2023-06-01

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

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

by Bianca Panis, Bianca Panis, Bianca Panis, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Annet M. Bosch, Annet M. Bosch, Martijn C. G. J. Brouwers, Martijn C. G. J. Brouwers, Alberto Burlina, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, María L. Couce, Anibh M. Das, Anibh M. Das, Didem Demirbas, Aurélie Empain, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Elisa Leão-Teles, Dorothea Möslinger, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Katrin Õunap, Adriana Pané, Adriana Pané, Sabrina Paci, Sabrina Paci, Rossella Parini, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo
Published 2024-02-01

Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome

by Petr E. Jira, Ron A. Wevers, Jan de Jong, Estela Rubio-Gozalbo, Fokje S.M. Janssen-Zijlstra, Arno F.J. van Heyst, Rob C.A. Sengers, Jan A.M. Smeitink
Published 2000-08-01

Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake

by Eileen P. Treacy, Sebastian Vencken, Annet M. Bosch, Matthias Gautschi, Estela Rubio‐Gozalbo, Charlotte Dawson, Darragh Nerney, Hugh Owen Colhoun, Loai Shakerdi, Gregory M. Pastores, Roisin O'Flaherty, Radka Saldova
Published 2021-09-01

Natural history of three late-diagnosed classic Galactosemia patients

by Dulce Quelhas, Sandra D.K. Kingma, An I. Jonckheere, Claudia S. Smeets-Peels, Daniel Costa Gomes, José Duro, Anabela Oliveira, Gert Matthijs, Laura K.M. Steinbusch, Jaak Jaeken, Isabel Rivera, Estela Rubio-Gozalbo
Published 2024-03-01

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

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

Galactose epimerase deficiency: lessons from the GalNet registry

by Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien, David J. Timson, Gerard T. Berry, M. Estela Rubio-Gozalbo
Published 2022-09-01

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

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

by Abigail Veldman, M. B. Gea Kiewiet, Dineke Westra, Annet M. Bosch, Marion M. G. Brands, René I. F. M. de Coo, Terry G. J. Derks, Sabine A. Fuchs, Johanna. M. P. van den Hout, Hidde H. Huidekoper, Leo A. J. Kluijtmans, Klaas Koop, Charlotte M. A. Lubout, Margaretha F. Mulder, Bianca Panis, M. Estela Rubio-Gozalbo, Monique G. de Sain-van der Velden, Jaqueline Schaefers, Andrea B. Schreuder, Gepke Visser, Ron A. Wevers, Frits A. Wijburg, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Published 2023-10-01

Psychosocial Developmental Milestones in Men With Classic Galactosemia

by Gubbels, Cynthia Sophia, Maurice-Stam, Heleen, Berry, Gerard T., Bosch, Annet Maria, Waisbren, Susan Ellen, Rubio-Gozalbo, Maria Estela, Grootenhuis, Martha Alexandra
Published 2011