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Growth in treated classical galactosemia patients.
Published in:
2007
By:
- Panis, Bianca;
- Gerver, Willem-Jan M.;
- Rubio-Gozalbo, M. Estela
Publication type:
journal article
The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
Published in:
2016
By:
- 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.
Publication type:
journal article
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.
Published in:
2016
By:
- Hollak, Carla E. M.;
- Biegstraaten, Marieke;
- Baumgartner, Matthias R.;
- Belmatoug, Nadia;
- Bembi, Bruno;
- Bosch, Annet;
- Brouwers, Martijn;
- Dekker, Hanka;
- Dobbelaere, Dries;
- Engelen, Marc;
- Groenendijk, Marike C.;
- Lachmann, Robin;
- Langendonk, Janneke G.;
- Langeveld, Mirjam;
- Linthorst, Gabor;
- Morava, Eva;
- Bwee Tien Poll-The;
- Rahman, Shamima;
- Rubio-Gozalbo, M. Estela;
- Spiekerkoetter, Ute
Publication type:
journal article
Fertility preservation in female classic galactosemia patients.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-107
By:
- 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.;
- Estela Rubio-Gozalbo, M.
Publication type:
Article
Fertility preservation in female classic galactosemia patients.
Published in:
2013
By:
- 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
Publication type:
journal article
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 30, doi. 10.1186/1750-1172-7-30
By:
- L. Touw, Catharina M.;
- A. Smit, G. Peter;
- de Vries, Maaike;
- C. de Klerk, Johannis B.;
- Bosch, Annet M.;
- Visser, Gepke;
- Mulder, Margot F.;
- Rubio-Gozalbo, M. Estela;
- Elvers, Bert;
- Niezen-Koning, Klary E.;
- A. Wanders, Ronald J.;
- Waterham, Hans R.;
- Reijngoud, Dirk-Jan;
- J. Derks, Terry G.
Publication type:
Article
Temporal Characteristics of Online Syntactic Sentence Planning: An Event-Related Potential Study.
Published in:
PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0082884
By:
- Timmers, Inge;
- Gentile, Francesco;
- Rubio-Gozalbo, M. Estela;
- Jansma, Bernadette M.
Publication type:
Article
From Mind to Mouth: Event Related Potentials of Sentence Production in Classic Galactosemia.
Published in:
PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052826
By:
- Timmers, Inge;
- Jansma, Bernadette M.;
- Rubio-Gozalbo, M. Estela
Publication type:
Article
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.
Published in:
2018
By:
- Haskovic, Minela;
- Derks, Britt;
- van der Ploeg, Liesbeth;
- Trommelen, Jorn;
- Nyakayiru, Jean;
- van Loon, Luc J. C.;
- Mackinnon, Sabrina;
- Yue, Wyatt W.;
- Peake, Roy W. A.;
- Zha, Li;
- Demirbas, Didem;
- Qi, Wanshu;
- Huang, Xiaoping;
- Berry, Gerard T.;
- Achten, Jelle;
- Bierau, Jörgen;
- Rubio-Gozalbo, M. Estela;
- Coelho, Ana I.
Publication type:
journal article
Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions.
Published in:
2018
By:
- Colhoun, Hugh-Owen;
- Rubio Gozalbo, Estela M.;
- Bosch, Annet M.;
- Knerr, Ina;
- Dawson, Charlotte;
- Brady, Jennifer;
- Galligan, Marie;
- Stepien, Karolina;
- O'Flaherty, Roisin;
- Catherine Moss, C.;
- Peter Barker, P.;
- Fitzgibbon, Maria;
- Doran, Peter P.;
- Treacy, Eileen P.
Publication type:
journal article
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
Published in:
Human Genetics, 2009, v. 125, n. 5/6, p. 581, doi. 10.1007/s00439-009-0653-6
By:
- van Kuilenburg, André B. P.;
- Meijer, Judith;
- Mul, Adri N. P. M.;
- Hennekam, Raoul C. M.;
- Hoovers, Jan M. N.;
- de Die-Smulders, Christine E. M.;
- Weber, Peter;
- Mori, Andrea Capone;
- Bierau, Jörgen;
- Fowler, Brian;
- Macke, Klaus;
- Sass, Jörn Oliver;
- Meinsma, Rutger;
- Hennermann, Julia B.;
- Miny, Peter;
- Zoetekouw, Lida;
- Vijzelaar, Raymon;
- Nicolai, Joost;
- Ylstra, Bauke;
- Rubio-Gozalbo, M. Estela
Publication type:
Article
The challenges of classical galactosemia: HRQoL in pediatric and adult patients.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02749-8
By:
- Hermans, Merel E.;
- van Oers, Hedy A.;
- Geurtsen, Gert J.;
- Haverman, Lotte;
- Hollak, Carla E. M.;
- Rubio-Gozalbo, M. Estela;
- Bosch, Annet M.
Publication type:
Article
Development of tools to facilitate the diagnosis of hereditary fructose intolerance.
Published in:
Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 353, doi. 10.1002/jmd2.12379
By:
- Panis, Bianca;
- Janssen, Lise E. F.;
- Lefeber, Dirk J.;
- Simons, Nynke;
- Rubio‐Gozalbo, M. Estela;
- Brouwers, Martijn C. G. J.
Publication type:
Article
Galactose epimerase deficiency: lessons from the GalNet registry.
Published in:
2022
By:
- Derks, Britt;
- Demirbas, Didem;
- Arantes, Rodrigo R.;
- Banford, Samantha;
- Burlina, Alberto B.;
- Cabrera, Analía;
- Chiesa, Ana;
- Couce, M. Luz;
- Dionisi-Vici, Carlo;
- Gautschi, Matthias;
- Grünewald, Stephanie;
- Morava, Eva;
- Möslinger, Dorothea;
- Scholl-Bürgi, Sabine;
- Skouma, Anastasia;
- Stepien, Karolina M.;
- Timson, David J.;
- Berry, Gerard T.;
- Rubio-Gozalbo, M. Estela
Publication type:
journal article
Response to the Letter to the Editor Regarding “Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria”.
Published in:
2018
By:
- 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.
Publication type:
Letter to the Editor
Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.
Published in:
Annals of Nutrition & Metabolism, 2017, v. 70, n. 2, p. 111, doi. 10.1159/000465529
By:
- 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.
Publication type:
Article
Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.
Published in:
2020
By:
- Welsink-Karssies, Mendy M.;
- Oostrom, Kim J.;
- Hermans, Merel E.;
- Hollak, Carla E. M.;
- Janssen, Mirian C. H.;
- Langendonk, Janneke G.;
- Oussoren, Esmee;
- Rubio Gozalbo, M. Estela;
- de Vries, Maaike;
- Geurtsen, Gert J.;
- Bosch, Annet M.
Publication type:
journal article
Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.
Published in:
2020
By:
- Welsink-Karssies, Mendy M.;
- Oostrom, Kim J.;
- Hermans, Merel E.;
- Hollak, Carla E. M.;
- Janssen, Mirian C. H.;
- Langendonk, Janneke G.;
- Oussoren, Esmee;
- Gozalbo, M. Estela Rubio;
- de Vries, Maaike;
- Geurtsen, Gert J.;
- Bosch, Annet M.;
- Rubio Gozalbo, M Estela
Publication type:
journal article
Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 703, doi. 10.1002/jimd.12742
By:
- Derks, Britt;
- Kumar, Varsha Shashi;
- Yadnik, Sai;
- Panis, Bianca;
- Bosch, Annet M.;
- Cassiman, David;
- Janssen, Mirian C. H.;
- Schuhmann, Teresa;
- Rubio‐Gozalbo, M. Estela;
- Jansma, Bernadette M.
Publication type:
Article
Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 994, doi. 10.1002/jimd.12265
By:
- 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
Publication type:
Article
The 1‐<sup>13</sup>C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 507, doi. 10.1002/jimd.12207
By:
- Welsink‐Karssies, Mendy M.;
- Harskamp, Dewi;
- Ferdinandusse, Sacha;
- Hollak, Carla E. M.;
- Huidekoper, Hidde H.;
- Janssen, Mirian C. H.;
- Kemper, E. Marleen;
- Langendonk, Janneke G.;
- Rubio‐Gozalbo, M. Estela;
- Vries, Maaike C.;
- Wijburg, Frits A.;
- Schierbeek, Henk;
- Bosch, Annet M.
Publication type:
Article
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 392, doi. 10.1002/jimd.12202
By:
- 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
Publication type:
Article
Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 424, doi. 10.1002/jimd.12193
By:
- Haijes, Hanneke A.;
- Molema, Femke;
- Langeveld, Mirjam;
- Janssen, Mirian C.;
- Bosch, Annet M.;
- Spronsen, Francjan;
- Mulder, Margot F.;
- Verhoeven‐Duif, Nanda M.;
- Jans, Judith J.M.;
- Ploeg, Ans T.;
- Wagenmakers, Margreet A.;
- Rubio‐Gozalbo, M. Estela;
- Brouwers, Martijn C. G. J.;
- Vries, Maaike C.;
- Langendonk, Janneke G.;
- Williams, Monique;
- Hasselt, Peter M.
Publication type:
Article
Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 878, doi. 10.1002/jimd.12147
By:
- Rijt, Willemijn J.;
- Ferdinandusse, Sacha;
- Giannopoulos, Panagiotis;
- Ruiter, Jos P. N.;
- Boer, Lonneke;
- Bosch, Annet M.;
- Huidekoper, Hidde H.;
- Rubio‐Gozalbo, M. Estela;
- Visser, Gepke;
- Williams, Monique;
- Wanders, Ronald J. A.;
- Derks, Terry G. J.
Publication type:
Article
Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 791, doi. 10.1007/s10545-018-0179-y
By:
- 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
Publication type:
Article
Impaired fertility and motor function in a zebrafish model for classic galactosemia.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 117, doi. 10.1007/s10545-017-0071-1
By:
- Vanoevelen, Jo M.;
- van Erven, Britt;
- Bierau, Jörgen;
- Huang, Xiaoping;
- Berry, Gerard T.;
- Vos, Rein;
- Coelho, Ana I.;
- Rubio-Gozalbo, M. Estela
Publication type:
Article
Fatal cerebral edema associated with serine deficiency in CSF.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. 181, doi. 10.1007/s10545-010-9067-9
By:
- Keularts, Irene M. L. W.;
- Leroy, Piet L. J. M.;
- Rubio‐Gozalbo, Estela M.;
- Spaapen, Leo J. M.;
- Weber, Biene;
- Dorland, Bert;
- de Koning, Tom J.;
- Verhoeven‐Duif, Nanda M.
Publication type:
Article
Fatal cerebral edema associated with serine deficiency in CSF.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. S181, doi. 10.1007/s10545-010-9067-9
By:
- Keularts, Irene M. L. W.;
- Leroy, Piet L. J. M.;
- Rubio-Gozalbo, Estela M.;
- Spaapen, Leo J. M.;
- Weber, Biene;
- Dorland, Bert;
- de Koning, Tom J.;
- Verhoeven-Duif, Nanda M.
Publication type:
Article
Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model.
Published in:
Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2017, v. 300, n. 9, p. 1570, doi. 10.1002/ar.23616
By:
- Coelho, Ana I.;
- Bierau, Jörgen;
- Lindhout, Martijn;
- Achten, Jelle;
- Kramer, Boris W.;
- Rubio‐Gozalbo, M. Estela
Publication type:
Article
The hypergonadotropic hypogonadism conundrum of classic galactosemia.
Published in:
Human Reproduction Update, 2023, v. 29, n. 2, p. 246, doi. 10.1093/humupd/dmac041
By:
- 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
Publication type:
Article
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 56, doi. 10.3390/ijns9040056
By:
- Veldman, Abigail;
- Kiewiet, M. B. Gea;
- Westra, Dineke;
- Bosch, Annet M.;
- Brands, Marion M. G.;
- de Coo, René I. F. M.;
- Derks, Terry G. J.;
- Fuchs, Sabine A.;
- van den Hout, Johanna. M. P.;
- Huidekoper, Hidde H.;
- Kluijtmans, Leo A. J.;
- Koop, Klaas;
- Lubout, Charlotte M. A.;
- Mulder, Margaretha F.;
- Panis, Bianca;
- Rubio-Gozalbo, M. Estela;
- de Sain-van der Velden, Monique G.;
- Schaefers, Jaqueline;
- Schreuder, Andrea B.;
- Visser, Gepke
Publication type:
Article
A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED- CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing.
Published in:
Human Mutation, 2013, v. 34, n. 7, p. 967, doi. 10.1002/humu.22316
By:
- Sollie, Annet;
- Sijmons, Rolf H.;
- Lindhout, Dick;
- Ploeg, Ans T.;
- Rubio Gozalbo, M. Estela;
- Smit, G. Peter A.;
- Verheijen, Frans;
- Waterham, Hans R.;
- Weely, Sonja;
- Wijburg, Frits A.;
- Wijburg, Rudolph;
- Visser, Gepke
Publication type:
Article
Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs.
Published in:
Glycobiology, 2022, v. 39, n. 3, p. 239, doi. 10.1093/glycob/cwab106
By:
- Scherpenzeel, Monique van;
- Conte, Federica;
- Büll, Christian;
- Ashikov, Angel;
- Hermans, Esther;
- Willems, Anke;
- Tol, Walinka van;
- Kragt, Else;
- Noga, Marek;
- Moret, Ed E;
- Heise, Torben;
- Langereis, Jeroen D;
- Rossing, Emiel;
- Zimmermann, Michael;
- Rubio-Gozalbo, M Estela;
- Jonge, Marien I de;
- Adema, Gosse J;
- Zamboni, Nicola;
- Boltje, Thomas;
- Lefeber, Dirk J
Publication type:
Article
Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1.
Published in:
PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0185342
By:
- 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.
Publication type:
Article

Found: 34