-
1Academic Journal
المؤلفون: Traets, Marissa J.M., Ruiter, Titine J.J., Levine, Charles, Rijneveld, Anita W., Jans, Judith J., Alt, Carsten, Rab, Minke A.E., Chen, Yu Wei, van Wijk, Richard, van Oirschot, Brigitte A.
المصدر: Traets , M J M , Ruiter , T J J , Levine , C , Rijneveld , A W , Jans , J J , Alt , C , Rab , M A E , Chen , Y W , van Wijk , R & van Oirschot , B A 2025 , ' Red blood cell pyruvate kinase properties in Townes and Berkeley sickle cell disease mouse models – Of mice and men ' , Blood Cells, Molecules, and Diseases , vol. 111 , 102909 . https://doi.org/10.1016/j.bcmd.2025.102909
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/cd655e57-209a-4403-a0f9-05812f8b91a3
https://doi.org/10.1016/j.bcmd.2025.102909
https://pure.eur.nl/ws/files/181726746/Red_blood_cell_pyruvate_kinase_properties_in_Townes_and_Berkeley_sickle_cell_disease_mouse_models_Of_mice_and_men.pdf
http://www.scopus.com/inward/record.url?scp=85215382590&partnerID=8YFLogxK -
2Academic Journal
المؤلفون: Kok, Gautam, Schene, Imre F, Ilcken, Eveline F, Alcaraz, Paula Sobrevals, Mendes, Marisa I, Smith, Desiree E C, Salomons, Gajja, Shehata, Sawsan, Jans, Judith J M, Maroofian, Reza, Hoek, Tim A, van Es, Robert M, Rehmann, Holger, Nieuwenhuis, Edward E S, Vos, Harmjan R, Fuchs, Sabine A
المساهمون: Stichting Metakids, Netherlands Organization for Health Research and Development, Nederlandse Organisatie voor Wetenschappelijk Onderzoek
المصدر: Nucleic Acids Research ; volume 53, issue 1 ; ISSN 0305-1048 1362-4962
-
3Academic Journal
المؤلفون: van Karnebeek, Clara, D M, O’donnell-Luria, Anne, Baynam, Gareth, Baudot, Anaïs, Groza, Tudor, Jans, Judith, J M, Lassmann, Timo, Letinturier, Mary Catherine V., Montgomery, Stephen, B, Robinson, Peter, N, Sansen, Stefaan, Mehrian-Shai, Ruty, Steward, Charles, Kosaki, Kenjiro, Durao, Patricia, Sadikovic, Bekim
المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), European Project: 825575,H2020,EJP RD(2019)
المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.science/hal-04736576 ; Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.357. ⟨10.1186/s13023-024-03361-0⟩.
مصطلحات موضوعية: Rare disease, Rare disease diagnosis, Innovative technologies, IRDiRC, Rare disease research, Genomics, Molecular diagnostics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Relation: info:eu-repo/grantAgreement//825575/EU/European Joint Programme on Rare Diseases/EJP RD
-
4Academic Journal
المؤلفون: van Dijk, Myrthe J, Traets, Marissa J M, van Oirschot, Brigitte A, Ruiter, Titine J J, de Wilde, Jonathan R A, Bos, Jennifer, van Solinge, Wouter W, Koziel, Margaret J, Jans, Judith J M, Wani, Revati, van Beers, Eduard J, van Wijk, Richard, Rab, Minke A E
المساهمون: CDL Rode cel, Unit Opleiding Aios, Cancer, Genetica Sectie Metabole Diagnostiek, CDL Research analisten, Centraal Diagnostisch Laboratorium, Brain, Child Health, Poli Van Creveldkliniek Medisch, CDL Cluster Speciële Diagnostiek, Circulatory Health
مصطلحات موضوعية: amino acids, anemia, metabolism, red blood cell, sickle cell disease, Journal Article
وصف الملف: application/pdf
-
5Academic Journal
المؤلفون: van Dijk, Myrthe J, Ruiter, Titine J J, van der Veen, Sigrid, Rab, Minke A E, van Oirschot, Brigitte A, Bos, Jennifer, Derichs, Cleo, Rijneveld, Anita W, Cnossen, Marjon H, Nur, Erfan, Biemond, Bart J, Bartels, Marije, Schutgens, Roger E G, van Solinge, Wouter W, Jans, Judith J M, van Beers, Eduard J, van Wijk, Richard
المساهمون: CDL Rode cel, Unit Opleiding Aios, Genetica Sectie Metabole Diagnostiek, Poli Van Creveldkliniek Medisch, Circulatory Health, CDL Research analisten, Haematologie patientenzorg, Child Health, Infection & Immunity, Centraal Diagnostisch Laboratorium, Brain, CDL Cluster Speciële Diagnostiek
مصطلحات موضوعية: Hematology, Journal Article
وصف الملف: application/pdf
-
6Academic Journal
المؤلفون: Meijer, Nils W F, Zwakenberg, Susan, Gerrits, Johan, Westland, Denise, Ardisasmita, Arif I, Fuchs, Sabine A, Verhoeven-Duif, Nanda M, Jans, Judith J M, Zwartkruis, Fried J T
المساهمون: Genetica Sectie Metabole Diagnostiek, CMM Groep Kalkhoven, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Genetica, Cancer, Brain
مصطلحات موضوعية: TCA cycle, direct infusion–high-resolution mass spectrometry, glutaminolysis, glycolysis, isotope tracing, organoids, patient material, Journal Article
وصف الملف: application/pdf
-
7Academic Journal
المؤلفون: van Dijk, Myrthe J., Ruiter, Titine J. J., van der Veen, Sigrid, Rab, Minke A. E., van Oirschot, Brigitte A., Bos, Jennifer, Derichs, Cleo, Rijneveld, Anita W., Cnossen, Marjon H., Nur, Erfan, Biemond, Bart J., Bartels, Marije, Schutgens, Roger E. G., van Solinge, Wouter W., Jans, Judith J. M., van Beers, Eduard J., van Wijk, Richard
المساهمون: Agios Pharmaceuticals
المصدر: HemaSphere ; volume 8, issue 6 ; ISSN 2572-9241 2572-9241
-
8Academic Journal
المؤلفون: van Dijk, Myrthe J., Traets, Marissa J. M., van Oirschot, Brigitte A., Ruiter, Titine J. J., de Wilde, Jonathan R. A., Bos, Jennifer, van Solinge, Wouter W., Koziel, Margaret J., Jans, Judith J. M., Wani, Revati, van Beers, Eduard J., van Wijk, Richard, Rab, Minke A. E.
المصدر: eJHaem ; volume 5, issue 1, page 21-32 ; ISSN 2688-6146 2688-6146
-
9Academic Journal
المؤلفون: Kok, Gautam, Schene, Imre F, Ilcken, Eveline F, Alcaraz, Paula Sobrevals, Mendes, Marisa I, Smith, Desiree E C, Salomons, Gajja, Shehata, Sawsan, Jans, Judith J M, Maroofian, Reza, Hoek, Tim A, van Es, Robert M, Rehmann, Holger, Nieuwenhuis, Edward E S, Vos, Harmjan R, Fuchs, Sabine A
المصدر: Nucleic Acids Research; 1/13/2025, Vol. 53 Issue 1, p1-12, 12p
-
10Academic Journal
المؤلفون: Willems, Anke P., van der Ham, Maria, Schiebergen-Bronkhorst, Birgit G. M., van Aalderen, Mirjam, de Barse, Martina M. J., de Gruyter, Fini E., van Hoek, Ilja N., Pras-Raves, Mia L., de Sain-van der Velden, Monique G. M., Prinsen, Hubertus C. M. T., Verhoeven-Duif, Nanda M., Jans, Judith J. M.
المصدر: Willems , A P , van der Ham , M , Schiebergen-Bronkhorst , B G M , van Aalderen , M , de Barse , M M J , de Gruyter , F E , van Hoek , I N , Pras-Raves , M L , de Sain-van der Velden , M G M , Prinsen , H C M T , Verhoeven-Duif , N M & Jans , J J M 2023 , ' A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases ' , Frontiers ....
-
11Academic Journal
المؤلفون: Rumping, Lynne, Pouwels, Petra J. W., Wolf, Nicole I., Rehmann, Holger, Wamelink, Mirjam M. C., Waisfisz, Quinten, Jans, Judith J. M., Prinsen, Hubertus C. M. T., van de Kamp, Jiddeke M., van Hasselt, Peter M.
المصدر: Rumping , L , Pouwels , P J W , Wolf , N I , Rehmann , H , Wamelink , M M C , Waisfisz , Q , Jans , J J M , Prinsen , H C M T , van de Kamp , J M & van Hasselt , P M 2023 , ' A second case of glutaminase hyperactivity : Expanding the phenotype with epilepsy ' , JIMD Reports , vol. 64 , no. 3 , pp. 217-222 . https://doi.org/10.1002/jmd2.12359
-
12Academic Journal
المؤلفون: Jansen, Mark, Schuldt, Maike, van Driel, Beau O., Schmidt, Amand F., Christiaans, Imke, van der Crabben, Saskia N., Hoedemaekers, Yvonne M., Dooijes, Dennis, Jongbloed, Jan D. H., Boven, Ludolf G., Deprez, Ronald H. Lekanne, Wilde, Arthur A. M., Jans, Judith J. M., van der Velden, Jolanda, de Boer, Rudolf A., van Tintelen, J. Peter, Asselbergs, Folkert W., Baas, Annette F.
المصدر: Jansen , M , Schuldt , M , van Driel , B O , Schmidt , A F , Christiaans , I , van der Crabben , S N , Hoedemaekers , Y M , Dooijes , D , Jongbloed , J D H , Boven , L G , Deprez , R H L , Wilde , A A M , Jans , J J M , van der Velden , J , de Boer , R A , van Tintelen , J P , Asselbergs , F W & Baas , A F 2023 , ' Untargeted ....
-
13Academic Journal
المؤلفون: Meijer, Nils W F, Gerrits, Johan, Zwakenberg, Susan, Zwartkruis, Fried J T, Verhoeven-Duif, Nanda M, Jans, Judith J M
المساهمون: Genetica Sectie Metabole Diagnostiek, Genetica, Cancer, Child Health, Brain
مصطلحات موضوعية: NAD+ deficiency, NAD+ salvage pathway, NADSYN1, Preiss–Handlerpathway, de novo NAD+ synthesis pathway, glycolysis, metabolomics, pentose phosphate pathway, polyol pathway, Journal Article
وصف الملف: application/pdf
-
14Academic Journal
المؤلفون: Achleitner, Melanie T, Jans, Judith J M, Ebner, Laura, Spenger, Johannes, Konstantopoulou, Vassiliki, Feichtinger, René G, Brugger, Karin, Mayr, Doris, Wevers, Ron A, Thiel, Christian, Wortmann, Saskia B, Mayr, Johannes A
المساهمون: Genetica Sectie Metabole Diagnostiek, Brain, Child Health
مصطلحات موضوعية: PPA1, galactose, galactosemia, hyperbilirubinemia, inborn metabolic disorder, pyrophosphate, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
وصف الملف: application/pdf
-
15Academic Journal
المؤلفون: Willems, Anke P, van der Ham, Maria, Schiebergen-Bronkhorst, Birgit G M, van Aalderen, Mirjam, de Barse, Martina M J, De Gruyter, Fini E, van Hoek, Ilja N, Pras-Raves, Mia L, de Sain-van der Velden, Monique G M, Prinsen, Hubertus C M T, Verhoeven-Duif, Nanda M, Jans, Judith J M
المساهمون: Genetica Sectie Metabole Diagnostiek, Genetica Lab. Metabole Diagnostiek, Genetica Medische Informatica, Child Health, Genetica, Cancer, Brain
مصطلحات موضوعية: biomarker, diagnostics, direct-infusion high resolution mass spectrometry, genetic diseases, inherited metabolic diseases, untargeted metabolomics, Molecular Biology, Biochemistry, Genetics and Molecular Biology (miscellaneous)
وصف الملف: application/pdf
-
16Academic Journal
المؤلفون: van Dijk, Myrthe J, Rab, Minke A E, van Oirschot, Brigitte A, Bos, Jennifer, Derichs, Cleo, Rijneveld, Anita W, Cnossen, Marjon H, Nur, Erfan, Biemond, Bart J, Bartels, Marije, Jans, Judith J M, van Solinge, W W, Schutgens, Roger E G, van Wijk, Richard, van Beers, Eduard J
المساهمون: CDL Rode cel, Unit Opleiding Aios, Circulatory Health, CDL Research analisten, Poli Van Creveldkliniek Medisch, Haematologie patientenzorg, Child Health, Genetica Sectie Metabole Diagnostiek, Brain, Centraal Diagnostisch Laboratorium, Infection & Immunity, CDL Cluster Speciële Diagnostiek
مصطلحات موضوعية: Journal Article
وصف الملف: application/pdf
-
17Academic Journal
المؤلفون: Edridge, Arthur W D, Abd-Elfarag, Gasim, Deijs, Martin, Broeks, Melissa H, Cristella, Cosimo, Sie, Brandon, Vaz, Frédéric M, Jans, Judith J M, Calis, Job, Verhoef, Hans, Demir, Ayse, Poppert, Sven, Nickel, Beatrice, van Dam, Alje, Sebit, Boy, Titulaer, Maarten J, Verweij, Jaco J, de Jong, Menno D, van Gool, Tom, Faragher, Brian, Verhoeven-Duif, Nanda M, Elledge, Stephen J, van der Hoek, Lia, Boele van Hensbroek, Michael
المساهمون: Genetica Sectie Metabole Diagnostiek, Cancer, Brain, Child Health, LKCH Staf Patiëntenzorg, Genetica
مصطلحات موضوعية: Mansonella perstans, nodding syndrome, Onchocerca volvulus, encephalopathy, Neurology, Psychiatry and Mental health, Biological Psychiatry, Cellular and Molecular Neuroscience, Journal Article
وصف الملف: application/pdf
-
18Academic Journal
المؤلفون: Ciapaite, Jolita, van Roermund, Carlo W T, Bosma, Marjolein, Gerrits, Johan, Houten, Sander M, IJlst, Lodewijk, Waterham, Hans R, van Karnebeek, Clara D M, Wanders, Ronald J A, Zwartkruis, Fried J T, Jans, Judith J, Verhoeven-Duif, Nanda M
المساهمون: Genetica Sectie Metabole Diagnostiek, Brain, Child Health, Genetica, Cancer
مصطلحات موضوعية: mitochondrial dysfunction, pyridox(am)ine 5′-phosphate oxidase (PNPO), pyridoxal 5′-phosphate homeostasis protein PLPHP (PROSC), transaminases, vitamin B metabolism, α-ketoglutarate, Molecular Biology, Biochemistry, Cell Biology, Journal Article
وصف الملف: application/pdf
-
19Academic Journal
المؤلفون: van Dijk, Myrthe J, van Oirschot, Brigitte A, Stam-Slob, Manon C, Waanders, Esmé, van der Zwaag, Bert, van Beers, Eduard J, Jans, Judith J M, van der Linden, Peter Willem, Torregrosa Diaz, Jose M, Gardie, Betty, Girodon, François, Schots, Rik, Thielen, Noortje, van Wijk, Richard
المساهمون: CDL Rode cel, Unit Opleiding Aios, Genetica Sectie Genoomdiagnostiek, Child Health, Poli Van Creveldkliniek Medisch, Genetica Sectie Metabole Diagnostiek, Brain, CDL Cluster Speciële Diagnostiek, Circulatory Health
مصطلحات موضوعية: Hematology, Journal Article
وصف الملف: application/pdf
-
20Academic Journal
المؤلفون: van Albada, Mirjam E, Shah, Pratik, Derks, Terry G J, Fuchs, Sabine, Jans, Judith J M, McLin, Valérie, van der Doef, Hubert P J
المصدر: IRCPSS , van Albada , M E , Shah , P , Derks , T G J , Fuchs , S , Jans , J J M , McLin , V & van der Doef , H P J 2023 , ' Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts ' , Frontiers in endocrinology , vol. 14 , 1190473 . https://doi.org/10.3389/fendo.2023.1190473
مصطلحات موضوعية: Humans, Fasting, Insulin, Glucose, Homeostasis, Hypoglycemia
وصف الملف: application/pdf
Full Text Finder