المؤلفون: Hermans, Merel E., Geurtsen, Gert J., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Merckelbach, Valerie L. V., Oussoren, Esmee, Oostrom, Kim J., Bosch, Annet M.

المصدر: Hermans , M E , Geurtsen , G J , Hollak , C E M , Janssen , M C H , Langendonk , J G , Merckelbach , V L V , Oussoren , E , Oostrom , K J & Bosch , A M 2024 , ' Social cognition, emotion-regulation and social competence in classical galactosemia patients without intellectual disability ' , Acta Neuropsychiatrica . https://doi.org/10.1017/neu.2023.61Test

العلاقة: https://research.vumc.nl/en/publications/efdb5766-6ca9-4062-a939-73e427c9df77Test

الإتاحة: https://doi.org/10.1017/neu.2023.61Test
https://research.vumc.nl/en/publications/efdb5766-6ca9-4062-a939-73e427c9df77Test
http://www.scopus.com/inward/record.url?scp=85183027179&partnerID=8YFLogxKTest

المؤلفون: Panis, Bianca, Vos, E. Naomi, Baric, Ivo, Bosch, Annet M., Brouwers, Martijn C.G.J., Burlina, Alberto, Cassiman, David, Coman, David J., Couce, María L., Das, Anibh M., Demirbas, Didem, Empain, Aurélie, Gautschi, Matthias, Grafakou, Olga, Grunewald, Stephanie, Kingma, Sandra D.K., Knerr, Ina, Leão-Teles, Elisa, Möslinger, Dorothea, Murphy, Elaine, Õunap, Katrin, Pané, Adriana, Paci, Sabrina, Parini, Rossella, Rivera, Isabel A., Scholl-Bürgi, Sabine, Schwartz, Ida V.D., Sdogou, Triantafyllia, Shakerdi, Loai A., Skouma, Anastasia, Stepien, Karolina M., Treacy, Eileen P., Waisbren, Susan, Berry, Gerard T., Rubio-Gozalbo, M. Estela

المصدر: Panis , B , Vos , E N , Baric , I , Bosch , A M , Brouwers , M C G J , Burlina , A , Cassiman , D , Coman , D J , Couce , M L , Das , A M , Demirbas , D , Empain , A , Gautschi , M , Grafakou , O , Grunewald , S , Kingma , S D K , Knerr , I , Leão-Teles , E , Möslinger , D , Murphy , E , Õunap , K , Pané , A , Paci ....

مصطلحات موضوعية: brain, classic galactosemia, cognitive problems, galactose, movement disorders, neurodevelopment, neuropsychiatry

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/bf188f17-218c-4f3b-99eb-6c7f90e2584cTest

الإتاحة: https://doi.org/10.3389/fgene.2024.1355962Test
https://cris.maastrichtuniversity.nl/en/publications/bf188f17-218c-4f3b-99eb-6c7f90e2584cTest

المؤلفون: 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.

المساهمون: Galactosemia Foundation

المصدر: Journal of Inherited Metabolic Disease ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12742Test

المؤلفون: Hermans, Merel E., Geurtsen, Gert J., Hollak, Carla E. M., Bosch, Annet M.

المصدر: JIMD Reports ; volume 65, issue 2, page 110-115 ; ISSN 2192-8312 2192-8312

الإتاحة: https://doi.org/10.1002/jmd2.12410Test

المؤلفون: Posset, Roland, Garbade, Sven F, Boy, Nikolas, Burlina, Alberto B, Dionisi‐Vici, Carlo, Dobbelaere, Dries, Garcia‐Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas Ah, Batshaw, Mark L, Baumgartner, Matthias R, McCandless, Shawn E, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F, Kölker, Stefan, Burgard, Peter, Berry, Susan A, Burrage, Lindsay, Coughlin, Curtis, Diaz, George A, Gallagher, Renata C, Gropman, Andrea, Harding, Cary O, Lee, Brendan, Le Mons, Cynthia, Lawrence Merritt, J, Nagamani, Sandesh CS, Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, WeisfeldAdams, James, Wong, Derek, Yudkoff, Marc, Arnoux, JeanBaptiste, Barić, Ivo, Bosch, Annet M, Chabrol, Brigitte, Chakrapani, Anupam, CortèsSaladefont, Elisenda, Couce, Maria L, Eyskens, Francois, Laet, Corine, Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grünewald, Stephanie, Häberle, Johannes, Hwu, WuhLiang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M, Martinelli, Diego, Murphy, Elaine, Mühlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, SykutCegielska, Jolanta, Walter, John H, Williams, Monique, Zeman, Jiri

المصدر: Journal of Inherited Metabolic Disease. 42(1)

مصطلحات موضوعية: Clinical Research, Pediatric, Digestive Diseases, Neurodegenerative, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Good Health and Well Being, Cohort Studies, Data Analysis, Delayed Diagnosis, Europe, Female, Humans, Infant, Newborn, Male, Neonatal Screening, North America, Ornithine Carbamoyltransferase Deficiency Disease, Rare Diseases, Urea, Urea Cycle Disorders, Inborn, Urea cycle Disorders, international registry and database, diagnostic methods, Additional individual contributors of the UCDC and the E-IMD consortium, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5h73x4jbTest

المؤلفون: Jansen, Heleen I., van Haeringen, Marije, Bouva, Marelle J., den Elzen, Wendy P. J., Bruinstroop, Eveline, van der Ploeg, Catharina P. B., van Trotsenburg, A. S. Paul, Zwaveling-Soonawala, Nitash, Heijboer, Annemieke C., Bosch, Annet M., de Jonge, Robert, Hoogendoorn, Mark, Boelen, Anita

المصدر: Jansen , H I , van Haeringen , M , Bouva , M J , den Elzen , W P J , Bruinstroop , E , van der Ploeg , C P B , van Trotsenburg , A S P , Zwaveling-Soonawala , N , Heijboer , A C , Bosch , A M , de Jonge , R , Hoogendoorn , M & Boelen , A 2023 , ' Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model ' , EUROPEAN THYROID JOURNAL , vol. 12 , no. ....

العلاقة: https://research.vumc.nl/en/publications/38ce99d1-0725-45a1-9f85-a132d16e16c2Test

الإتاحة: https://doi.org/10.1530/ETJ-23-0141Test
https://research.vumc.nl/en/publications/38ce99d1-0725-45a1-9f85-a132d16e16c2Test
http://www.scopus.com/inward/record.url?scp=85177234134&partnerID=8YFLogxKTest

المؤلفون: Stroek, Kevin, Visser, Allerdien, van der Ploeg, Catharina P. B., Zwaveling-Soonawala, Nitash, Heijboer, Annemieke C., Bosch, Annet M., van Trotsenburg, A. S. Paul, Boelen, Anita, Hoogendoorn, Mark, de Jonge, Robert

المصدر: Stroek , K , Visser , A , van der Ploeg , C P B , Zwaveling-Soonawala , N , Heijboer , A C , Bosch , A M , van Trotsenburg , A S P , Boelen , A , Hoogendoorn , M & de Jonge , R 2023 , ' Machine learning to improve false-positive results in the Dutch newborn screening for congenital hypothyroidism ' , Clinical Biochemistry , vol. 116 , pp. 7-10 . https://doi.org/10.1016/j.clinbiochem.2023.03.001Test

العلاقة: https://research.vumc.nl/en/publications/015ce8b9-6b37-499a-9b95-a6df52cea395Test

الإتاحة: https://doi.org/10.1016/j.clinbiochem.2023.03.001Test
https://research.vumc.nl/en/publications/015ce8b9-6b37-499a-9b95-a6df52cea395Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85149621447&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/36878346Test

المؤلفون: 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, Wevers, Ron A, Wijburg, Frits A, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan J

المساهمون: Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Genetica Sectie Metabole Diagnostiek

مصطلحات موضوعية: Wilson and Junger criteria, inborn errors of metabolism, inherited metabolic disorders, newborn screening, next-generation sequencing, treatability, treatable, Immunology and Microbiology (miscellaneous), Obstetrics and Gynaecology, Pediatrics, Perinatology, and Child Health

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/450269Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/450269Test

المؤلفون: Rosenberg, Noa, Stolwijk, Nina N., van den Berg, Sibren, Heus, Joris J., van der Wel, Vincent, van Gelder, Teun, Bosch, Annet M., de Visser, Saco J., Hollak, Carla E. M.

المصدر: Journal of Inherited Metabolic Disease ; volume 46, issue 5, page 806-816 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12605Test

المؤلفون: Hermans, Merel E., van Oers, Hedy A., Geurtsen, Gert J., Haverman, Lotte, Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Bosch, Annet M.

المساهمون: Stichting Metakids, Galactosemie Vereniging Nederland, Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-023-02749-8Test