Cognitive functioning in patients with classical galactosemia: a systematic review

por Hermans, Merel E., Welsink-Karssies, Mendy M., Bosch, Annet M., Oostrom, Kim J., Geurtsen, Gert J.
Publicado 2019

Juvenile idiopathic arthritis: magnetic resonance imaging of the clinically unaffected knee

por van Gulik, E. Charlotte, Welsink-Karssies, Mendy M., van den Berg, J. Merlijn, Schonenberg-Meinema, Dieneke, Dolman, Koert M., Barendregt, Anouk M., Nusman, Charlotte M., Maas, Mario, Kuijpers, Taco W., Hemke, Robert
Publicado 2018

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

por 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
Publicado 2019

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

por 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.
Publicado 2020

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

por 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.
Publicado 2020

Bone mineral density is within normal range in most adult phenylketonuria patients

por Lubout, Charlotte M. A., Blanco, Francisco Arrieta, Bartosiewicz, Katarzyna, Feillet, François, Gizewska, Maria, Hollak, Carla, van der Lee, Johanna H., Maillot, François, Stepien, Karolina M., Wagenmakers, Margreet A. E. M., Welsink‐Karssies, Mendy M., van Spronsen, Francjan J., Bosch, Annet M.
Publicado 2020

The 1‐(13)C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

por Welsink‐Karssies, Mendy M., van 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, de Vries, Maaike C., Wijburg, Frits A., Schierbeek, Henk, Bosch, Annet M.
Publicado 2020

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

por Welsink-Karssies, Mendy M, Ferdinandusse, Sacha, Geurtsen, Gert J, Hollak, Carla E M, Huidekoper, Hidde H, Janssen, Mirian C H, Langendonk, Janneke G, van der Lee, Johanna H, O’Flaherty, Roisin, Oostrom, Kim J, Roosendaal, Stefan D, Rubio-Gozalbo, M Estela, Saldova, Radka, Treacy, Eileen P, Vaz, Fred M, de Vries, Maaike C, Engelen, Marc, Bosch, Annet M
Publicado 2020