An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency von O'Callaghan, Benjamin, Bosch, Annet M., Houlden, Henry

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Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience von Jaeger, Bregje, Bosch, Annet M.

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Classical galactosaemia revisited von Bosch, Annet M.

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Key European guidelines for the diagnosis and management of patients with phenylketonuria von van Spronsen, Francjan J, Prof, van Wegberg, Annemiek MJ, MSc, Ahring, Kirsten, MSc, Bélanger-Quintana, Amaya, MD, Blau, Nenad, Prof, Bosch, Annet M, MD, Burlina, Alberto, MD, Campistol, Jaime, Prof, Feillet, Francois, Prof, Giżewska, Maria, MD, Huijbregts, Stephan C, PhD, Kearney, Shauna, MSc, Leuzzi, Vincenzo, Prof, Maillot, Francois, MD, Muntau, Ania C, Prof, Trefz, Fritz K, Prof, van Rijn, Margreet, PhD, Walter, John H, Prof, MacDonald, Anita, Prof

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Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries von Bosch, Annet M, Burlina, Alberto, Cunningham, Amy, Bettiol, Esther, Moreau-Stucker, Flavie, Koledova, Ekaterina, Benmedjahed, Khadra, Regnault, Antoine

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The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives von Bosch, Annet M, Stroek, Kevin, Abeling, Nico G, Waterham, Hans R, Ijlst, Lodewijk, Wanders, Ronald J A

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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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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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Cognitive functioning in patients with classical galactosemia: a systematic review von Hermans, Merel E, Welsink-Karssies, Mendy M, Bosch, Annet M, Oostrom, Kim J, Geurtsen, Gert J

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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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Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands von Stroek, Kevin, Heijboer, Annemieke C, Bouva, Marelle J, van der Ploeg, Catharina P B, Heijnen, Marie-Louise A, Weijman, Gert, Bosch, Annet M, de Jonge, Robert, Schielen, Peter C J I, van Trotsenburg, A S Paul, Boelen, Anita

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Riboflavin transporter deficiency in young adults unmasked by dietary changes von Jaeger, Bregje, Langeveld, Mirjam, Brunkhorst, Robert, Distelmaier, Felix, Pop, Ana, Wolf, Nicole I., Bosch, Annet M.

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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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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study von Keil, Stefanie, Anjema, Karen, van Spronsen, Francjan J, Lambruschini, Nilo, Burlina, Alberto, Bélanger-Quintana, Amaya, Couce, Maria L, Feillet, Francois, Cerone, Roberto, Lotz-Havla, Amelie S, Muntau, Ania C, Bosch, Annet M, Meli, Concetta A P, Billette de Villemeur, Thierry, Kern, Ilse, Riva, Enrica, Giovannini, Marcello, Damaj, Lena, Leuzzi, Vincenzo, Blau, Nenad

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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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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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Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients von Hermans, Merel E., Geurtsen, Gert J., Hollak, Carla E. M., Bosch, Annet M.

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Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents von Zeltner, Nina A, Welsink-Karssies, Mendy M, Landolt, Markus A, Bosshard-Bullinger, Dominique, Keller, Fabia, Bosch, Annet M, Groenendijk, Marike, Grünert, Sarah C, Karall, Daniela, Rettenbacher, Beatrix, Scholl-Bürgi, Sabine, Baumgartner, Matthias R, Huemer, Martina

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Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria von 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.

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Phenylketonuria von van Spronsen, Francjan J., Blau, Nenad, Harding, Cary, Burlina, Alberto, Longo, Nicola, Bosch, Annet M.

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