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Juvenile idiopathic arthritis: magnetic resonance imaging of the clinically unaffected knee.
Published in:
2018
By:
- Maas, Mario;
- Hemke, Robert;
- van Gulik, E. Charlotte;
- Barendregt, Anouk M.;
- Nusman, Charlotte M.;
- Welsink-Karssies, Mendy M.;
- van den Berg, J. Merlijn;
- Schonenberg-Meinema, Dieneke;
- Kuijpers, Taco W.;
- Dolman, Koert M.
Publication type:
journal article
Cognitive functioning in patients with classical galactosemia: a systematic review.
Published in:
2019
By:
- Hermans, Merel E.;
- Welsink-Karssies, Mendy M.;
- Bosch, Annet M.;
- Oostrom, Kim J.;
- Geurtsen, Gert J.
Publication type:
journal 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
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents.
Published in:
2019
By:
- 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
Publication type:
journal article
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1094, doi. 10.1002/jimd.12548
By:
- Hermans, Merel E.;
- van Weeghel, Michel;
- Vaz, Frédéric M.;
- Ferdinandusse, Sacha;
- Hollak, Carla E. M.;
- Huidekoper, Hidde H.;
- Janssen, Mirian C. H.;
- van Kuilenburg, André B. P.;
- Pras‐Raves, Mia L.;
- Wamelink, Mirjam M. C.;
- Wanders, Ronald J. A.;
- Welsink‐Karssies, Mendy M.;
- Bosch, Annet M.
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
Bone mineral density is within normal range in most adult phenylketonuria patients.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 251, doi. 10.1002/jimd.12177
By:
- Lubout, Charlotte M. A.;
- Blanco, Francisco Arrieta;
- Bartosiewicz, Katarzyna;
- Feillet, François;
- Gizewska, Maria;
- Hollak, Carla;
- Lee, Johanna H.;
- Maillot, François;
- Stepien, Karolina M.;
- Wagenmakers, Margreet A. E. M.;
- Welsink‐Karssies, Mendy M.;
- Spronsen, Francjan J.;
- Bosch, Annet M.
Publication type:
Article

Found: 8