Sweet and sour: an update on classic galactosemia von Coelho, Ana I., Rubio-Gozalbo, M. Estela, Vicente, João B., Rivera, Isabel

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Altered neural oscillations in classical galactosaemia during sentence production von Mazzini, Sara, Yadnik, Sai, Timmers, Inge, Rubio‐Gozalbo, Estela, Jansma, Bernadette M.

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

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Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients von 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.

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Noncoding sequence variants define a novel regulatory element in the first intron of the N‐acetylglutamate synthase gene von Häberle, Johannes, Moore, Marvin B., Haskins, Nantaporn, Rüfenacht, Véronique, Rokicki, Dariusz, Rubio‐Gozalbo, Estela, Tuchman, Mendel, Longo, Nicola, Yandell, Mark, Andrews, Ashley, AhMew, Nicholas, Caldovic, Ljubica

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White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging von Timmers, Inge, Zhang, Hui, Bastiani, Matteo, Jansma, Bernadette M., Roebroeck, Alard, Rubio-Gozalbo, M. Estela

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Monocarboxylate Transporter 1 Deficiency and Ketone Utilization von van Hasselt, Peter M, Ferdinandusse, Sacha, Monroe, Glen R, Ruiter, Jos P.N, Turkenburg, Marjolein, Geerlings, Maartje J, Duran, Karen, Harakalova, Magdalena, van der Zwaag, Bert, Monavari, Ardeshir A, Okur, Ilyas, Sharrard, Mark J, Cleary, Maureen, O’Connell, Nuala, Walker, Valerie, Rubio-Gozalbo, M. Estela, de Vries, Maaike C, Visser, Gepke, Houwen, Roderick H.J, van der Smagt, Jasper J, Verhoeven-Duif, Nanda M, Wanders, Ronald J.A, van Haaften, Gijs

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Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish von 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

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Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screen... von 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.

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Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions von 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

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Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study von 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.

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Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities von 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

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

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Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis von Maratha, Ashwini, Stockmann, Henning, Coss, Karen P, Estela Rubio-Gozalbo, M, Knerr, Ina, Fitzgibbon, Maria, McVeigh, Terri P, Foley, Patricia, Moss, Catherine, Colhoun, Hugh-Owen, van Erven, Britt, Stephens, Kelly, Doran, Peter, Rudd, Pauline, Treacy, Eileen

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Galactokinase deficiency: lessons from the GalNet registry von Rubio-Gozalbo, M. Estela, Derks, Britt, Das, Anibh Martin, Meyer, Uta, Möslinger, Dorothea, Couce, M. Luz, Empain, Aurélie, Ficicioglu, Can, Juliá Palacios, Natalia, De Los Santos De Pelegrin, Mariela M., Rivera, Isabel A., Scholl-Bürgi, Sabine, Bosch, Annet M., Cassiman, David, Demirbas, Didem, Gautschi, Matthias, Knerr, Ina, Labrune, Philippe, Skouma, Anastasia, Verloo, Patrick, Wortmann, Saskia B., Treacy, Eileen P., Timson, David J., Berry, Gerard T.

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International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up von Welling, Lindsey, Bernstein, Laurie E., Berry, Gerard T., Burlina, Alberto B., Eyskens, François, Gautschi, Matthias, Grünewald, Stephanie, Gubbels, Cynthia S., Knerr, Ina, Labrune, Philippe, van der Lee, Johanna H., MacDonald, Anita, Murphy, Elaine, Portnoi, Pat A., Õunap, Katrin, Potter, Nancy L., Rubio-Gozalbo, M. Estela, Spencer, Jessica B., Timmers, Inge, Treacy, Eileen P., Van Calcar, Sandra C., Waisbren, Susan E., Bosch, Annet M.

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CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder von Wortmann, Saskia B., Ziętkiewicz, Szymon, Kousi, Maria, Szklarczyk, Radek, Haack, Tobias B., Gersting, Søren W., Muntau, Ania C., Rakovic, Aleksandar, Renkema, G. Herma, Rodenburg, Richard J., Strom, Tim M., Meitinger, Thomas, Rubio-Gozalbo, M. Estela, Chrusciel, Elzbieta, Distelmaier, Felix, Golzio, Christelle, Jansen, Joop H., van Karnebeek, Clara, Lillquist, Yolanda, Lücke, Thomas, Õunap, Katrin, Zordania, Riina, Yaplito-Lee, Joy, van Bokhoven, Hans, Spelbrink, Johannes N., Vaz, Frédéric M., Pras-Raves, Mia, Ploski, Rafal, Pronicka, Ewa, Klein, Christine, Willemsen, Michel A.A.P., de Brouwer, Arjan P.M., Prokisch, Holger, Katsanis, Nicholas, Wevers, Ron A.

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Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia von Delnoy, Britt, Haskovic, Minela, Vanoevelen, Jo, Steinbusch, Laura K. M., Vos, Esther Naomi, Knoops, Kèvin, Zimmermann, Luc J. I., Noga, Marek, Lefeber, Dirk J., Martini, Paolo G. V., Coelho, Ana I., Rubio‐Gozalbo, Maria Estela

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The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies von Vos, E. Naomi, Demirbas, Didem, Mangel, Matthew, Rubio-Gozalbo, M. Estela, Levy, Harvey L., Berry, Gerard T.

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The challenges of classical galactosemia: HRQoL in pediatric and adult patients von Hermans, Merel E, van Oers, Hedy A, Geurtsen, Gert J, Haverman, Lotte, Hollak, Carla E M, Rubio-Gozalbo, M Estela, Bosch, Annet M

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