المؤلفون: Wanders, Ronald J. A., Vaz, Frédéric M., Ferdinandusse, Sacha, Kemp, Stephan, Ebberink, Merel S., Waterham, Hans R.

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2018 6

مصطلحات موضوعية: peroxisome metabolism, peroxisomes, omics, biomarkers, Zellweger syndrome

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942018000100316

المؤلفون: Vaz, Frédéric M., Ferdinandusse, Sacha, Salomons, Gajja S., Wanders, Ronald J. A.

المصدر: Vaz , F M , Ferdinandusse , S , Salomons , G S & Wanders , R J A 2025 , ' Disorders of fatty acid homeostasis ' , Journal of Inherited Metabolic Disease , vol. 48 , no. 1 , e12734 . https://doi.org/10.1002/jimd.12734

الاتاحة: https://research.vumc.nl/en/publications/773e1c21-ef48-4753-8914-fe3e3f1603c6
https://doi.org/10.1002/jimd.12734
http://www.scopus.com/inward/record.url?scp=85192153978&partnerID=8YFLogxK

المؤلفون: Wanders, Ronald J. A., Groothoff, Jaap W., Deesker, Lisa J., Salido, Eduardo, Garrelfs, Sander F.

المساهمون: Stichting Metakids, Amsterdam University Medical Centers, Stichting Stofwisselkracht, Nierstichting

المصدر: Journal of Inherited Metabolic Disease ; volume 48, issue 1 ; ISSN 0141-8955 1573-2665

الاتاحة: https://doi.org/10.1002/jimd.12817
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12817

المؤلفون: Vaz, Frédéric M., Staps, Pippa, van Klinken, Jan Bert, van Lenthe, Henk, Vervaart, Martin, Wanders, Ronald J. A., Pras-Raves, Mia L., van Weeghel, Michel, Salomons, Gajja S., Ferdinandusse, Sacha, Wevers, Ron A., Willemsen, Michèl A. A. P.

المصدر: Vaz , F M , Staps , P , van Klinken , J B , van Lenthe , H , Vervaart , M , Wanders , R J A , Pras-Raves , M L , van Weeghel , M , Salomons , G S , Ferdinandusse , S , Wevers , R A & Willemsen , M A A P 2024 , ' Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics ' , Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids , vol. 1869 , no. 2 , 159447 . https://doi.org/10.1016/j.bbalip.2023.159447

الاتاحة: https://research.vumc.nl/en/publications/9153acfe-7e33-4060-9c16-47d0fb16c656
https://doi.org/10.1016/j.bbalip.2023.159447
http://www.scopus.com/inward/record.url?scp=85181810637&partnerID=8YFLogxK

المؤلفون: Schwantje, Marit, Mosegaard, Signe, Knottnerus, Suzan J G, van Klinken, Jan Bert, Wanders, Ronald J, van Lenthe, Henk, Hermans, Jill, IJlst, Lodewijk, Denis, Simone W, Jaspers, Yorrick R J, Fuchs, Sabine A, Houtkooper, Riekelt H, Ferdinandusse, Sacha, Vaz, Frédéric M

المساهمون: Metabole ziekten onderzoek 2, Metabole ziekten onderzoek 1, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells

مصطلحات موضوعية: biomarkers, inborn errors, lipid metabolism, lipid metabolism disorders, lipidomics, lipolysis and fatty acids, lysophospholipids, mitochondria, Genetics, Molecular Biology, Biochemistry, Biotechnology

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/452677

الاتاحة: https://dspace.library.uu.nl/handle/1874/452677

المؤلفون: Garrelfs, Sander F., Chornyi, Serhii, te Brinke, Heleen, Ruiter, Jos, Groothoff, Jaap, Wanders, Ronald J. A.

المساهمون: Amsterdam University Medical Centers, Stichting Metakids, Stichting Stofwisselkracht

المصدر: Journal of Inherited Metabolic Disease ; volume 47, issue 2, page 280-288 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1002/jimd.12711
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12711

المؤلفون: Bisschoff, Michelle, Smuts, Izelle, Dercksen, Marli, Schoonen, Maryke, Vorster, Barend C., van der Watt, George, Spencer, Careni, Naidu, Kireshnee, Henning, Franclo, Meldau, Surita, McFarland, Robert, Taylor, Robert W., Patel, Krutik, Fassad, Mahmoud R., Vandrovcova, Jana, Wanders, Ronald J. A., van der Westhuizen, Francois H.

المساهمون: Medical Research Council, South African Medical Research Council, National Research Foundation, Wellcome Trust Centre for Mitochondrial Research, Mitochondrial Disease Patient Cohort, Lily Foundation, NIHR Biomedical Research Centre for Ageing and Age-related Disease, North-West University

المصدر: Orphanet Journal of Rare Diseases ; volume 19, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-023-03014-8
https://link.springer.com/content/pdf/10.1186/s13023-023-03014-8.pdf
https://link.springer.com/article/10.1186/s13023-023-03014-8/fulltext.html

المؤلفون: Wanders, Ronald J A, Baes, Myriam, Ribeiro, Daniela, Ferdinandusse, Sacha, Waterham, Hans R

مصطلحات موضوعية: Animals, Humans, Mice, Peroxisomes

Relation: info:eu-repo/grantAgreement/FCT/9471 - RIDTI/PTDC%2FBIA-CEL%2F31378%2F2017/PT; info:eu-repo/grantAgreement/FCT/CEEC IND 2017/CEECIND%2F03747%2F2017%2FCP1459%2FCT0046/PT; info:eu-repo/grantAgreement/EC/H2020/952373/EU; http://hdl.handle.net/10773/43371

الاتاحة: http://hdl.handle.net/10773/43371
https://doi.org/10.1152/physrev.00051.2021

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

Relation: https://dspace.library.uu.nl/handle/1874/449610

الاتاحة: https://dspace.library.uu.nl/handle/1874/449610

المؤلفون: Madeira, Catarina A., Anselmo, Carolina, Costa, João M., Bonito, Cátia A., Ferreira, Ricardo J., Santos, Daniel J.V.A., Wanders, Ronald J., Vicente, João B., Ventura, Fátima V., Leandro, Paula

المساهمون: Instituto de Tecnologia Química e Biológica António Xavier (ITQB)

مصطلحات موضوعية: Disease-causing mutations, Electron transferring flavoprotein, Flavin adenine dinucleotide, Inborn metabolic disorders, Medium chain acyl-CoA dehydrogenase deficiency, Protein misfolding, Molecular Medicine, Molecular Biology

Relation: PURE: 72614789; PURE UUID: 3546308c-ae2f-4eb8-8ba7-3a06d9d44c7e; Scopus: 85161346514; PubMed: 37257730; http://hdl.handle.net/10362/158646; https://doi.org/10.1016/j.bbadis.2023.166766

الاتاحة: http://hdl.handle.net/10362/158646
https://doi.org/10.1016/j.bbadis.2023.166766

المؤلفون: Gragnaniello, Vincenza, Gueraldi, Daniela, Puma, Andrea, Commone, Anna, Cazzorla, Chiara, Loro, Christian, Porcù, Elena, Stornaiuolo, Maria, Miglioranza, Paolo, Salviati, Leonardo, Wanders, Ronald J. A., Burlina, Alberto

المساهمون: Università degli Studi di Padova

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

الاتاحة: http://dx.doi.org/10.1186/s13023-023-02940-x
https://link.springer.com/content/pdf/10.1186/s13023-023-02940-x.pdf
https://link.springer.com/article/10.1186/s13023-023-02940-x/fulltext.html

المؤلفون: Balfoort, Berith M, Pampalone, Gioena, Ruiter, Jos P N, Denis, Simone W, Brands, Marion M, Timmer, Corrie, Wagenmakers, Margreet A E M, Wanders, Ronald J A, van Karnebeek, Clara D, Cellini, Barbara, Houtkooper, Riekelt H, Ferdinandusse, Sacha

المساهمون: Balfoort, Berith M, Pampalone, Gioena, Ruiter, Jos P N, Denis, Simone W, Brands, Marion M, Timmer, Corrie, Wagenmakers, Margreet A E M, Wanders, Ronald J A, van Karnebeek, Clara D, Cellini, Barbara, Houtkooper, Riekelt H, Ferdinandusse, Sacha

مصطلحات موضوعية: Enzyme activity, Gyrate atrophy, OAT, Ornithine aminotransferase, Pyridoxal-5′-phosphate, Pyridoxine

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/39053126; info:eu-repo/semantics/altIdentifier/wos/WOS:001279465800001; volume:143; issue:1-2; journal:MOLECULAR GENETICS AND METABOLISM; https://hdl.handle.net/11391/1586333

الاتاحة: https://hdl.handle.net/11391/1586333
https://doi.org/10.1016/j.ymgme.2024.108542

المؤلفون: Veenvliet, Annemarijne R. J., Garrelfs, Mark R., Udink ten Cate, Floris E. A., Ferdinandusse, Sacha, Denis, Simone, Fuchs, Sabine A., Schwantje, Marit, Geurtzen, Rosa, van Wegberg, Annemiek M. J., Huigen, Marleen C. D. G., Kluijtmans, Leo A. J., Wanders, Ronald J. A., Derks, Terry G. J., de Boer, Lonneke, Houtkooper, Riekelt H., de Vries, Maaike C., van Karnebeek, Clara D. M.

المصدر: Veenvliet , A R J , Garrelfs , M R , Udink ten Cate , F E A , Ferdinandusse , S , Denis , S , Fuchs , S A , Schwantje , M , Geurtzen , R , van Wegberg , A M J , Huigen , M C D G , Kluijtmans , L A J , Wanders , R J A , Derks , T G J , de Boer , L , Houtkooper , R H , de Vries , M C & van Karnebeek , C D M 2022 , ' Neonatal Long-Chain ....

الاتاحة: https://research.vumc.nl/en/publications/b4723519-4b23-4f86-889a-9566e99def48
https://doi.org/10.1016/j.ymgmr.2022.100873
http://www.scopus.com/inward/record.url?scp=85129601286&partnerID=8YFLogxK

المؤلفون: 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.

المصدر: Hermans , M E , van Weeghel , M , Vaz , F M , Ferdinandusse , S , Hollak , C E M , Huidekoper , H H , Janssen , M C H , van Kuilenburg , A B P , Pras-Raves , M L , Wamelink , M M C , Wanders , R J A , Welsink-Karssies , M M & Bosch , A M 2022 , ' Multi-omics in classical galactosemia : Evidence for the involvement of multiple metabolic pathways ' , Journal of Inherited Metabolic Disease , vol. 45 , no. 6 , ....

الاتاحة: https://research.vumc.nl/en/publications/bb30ebfc-79ab-4adc-bb4c-03cbc9a0c7d9
https://doi.org/10.1002/jimd.12548
http://www.scopus.com/inward/record.url?scp=85137061557&partnerID=8YFLogxK

المؤلفون: Schwantje, Marit, Fuchs, Sabine A., de Boer, Lonneke, Bosch, Annet M., Cuppen, Inge, Dekkers, Eugenie, Derks, Terry G. J., Ferdinandusse, Sacha, Ijlst, Lodewijk, Houtkooper, Riekelt H., Maase, Rose, van der Pol, W. Ludo, de Vries, Maaike C., Verschoof-Puite, Rendelien K., Wanders, Ronald J. A., Williams, Monique, Wijburg, Frits, Visser, Gepke

المصدر: Schwantje , M , Fuchs , S A , de Boer , L , Bosch , A M , Cuppen , I , Dekkers , E , Derks , T G J , Ferdinandusse , S , Ijlst , L , Houtkooper , R H , Maase , R , van der Pol , W L , de Vries , M C , Verschoof-Puite , R K , Wanders , R J A , Williams , M , Wijburg , F & Visser , G 2022 , ' Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein ....

الاتاحة: https://research.vumc.nl/en/publications/8af30444-b178-44d3-9b12-a0b903512800
https://doi.org/10.1002/jimd.12502
http://www.scopus.com/inward/record.url?scp=85128330912&partnerID=8YFLogxK

المؤلفون: Hauth, Ingeborg, Waterham, Hans R., Wanders, Ronald J. A., van der Crabben, Saskia N., van Karnebeek, Clara D. M.

المصدر: Hauth , I , Waterham , H R , Wanders , R J A , van der Crabben , S N & van Karnebeek , C D M 2022 , ' A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification ' , Cold Spring Harbor molecular case studies , vol. 8 , no. 2 , a006185 . https://doi.org/10.1101/mcs.a006185

الاتاحة: https://research.vumc.nl/en/publications/2e863081-4e6d-47a2-8663-a4fb2cf0a2d5
https://doi.org/10.1101/mcs.a006185
http://www.scopus.com/inward/record.url?scp=85128000511&partnerID=8YFLogxK

المؤلفون: Yifrach, Eden, Holbrook-Smith, Duncan, Bürgi, J. rôme, Othman, Alaa, Eisenstein, Miriam, van Roermund, Carlo W. T., Visser, Wouter, Tirosh, Asa, Rudowitz, Markus, Bibi, Chen, Galor, Shahar, Weill, Uri, Fadel, Amir, Peleg, Yoav, Erdmann, Ralf, Waterham, Hans R., Wanders, Ronald J. A., Wilmanns, Matthias, Zamboni, Nicola, Schuldiner, Maya, Zalckvar, Einat

المصدر: Yifrach , E , Holbrook-Smith , D , Bürgi , J R , Othman , A , Eisenstein , M , van Roermund , C W T , Visser , W , Tirosh , A , Rudowitz , M , Bibi , C , Galor , S , Weill , U , Fadel , A , Peleg , Y , Erdmann , R , Waterham , H R , Wanders , R J A , Wilmanns , M , Zamboni , N , Schuldiner , M & Zalckvar , E 2022 , ' Systematic multi-level analysis of an organelle ....

الاتاحة: https://research.vumc.nl/en/publications/f0ae92fa-7441-4301-9096-cec199748682
https://doi.org/10.15252/msb.202211186
http://www.scopus.com/inward/record.url?scp=85138623210&partnerID=8YFLogxK

المؤلفون: van Roermund, Carlo W. T., IJlst, Lodewijk, Linka, Nicole, Wanders, Ronald J. A., Waterham, Hans R.

المصدر: van Roermund , C W T , IJlst , L , Linka , N , Wanders , R J A & Waterham , H R 2022 , ' Peroxisomal ATP Uptake Is Provided by Two Adenine Nucleotide Transporters and the ABCD Transporters ' , Frontiers in Cell and Developmental Biology , vol. 9 , 788921 . https://doi.org/10.3389/fcell.2021.788921

الاتاحة: https://research.vumc.nl/en/publications/062e85c5-18c9-4a3f-9651-8ba0a2d5b7b8
https://doi.org/10.3389/fcell.2021.788921
http://www.scopus.com/inward/record.url?scp=85124006507&partnerID=8YFLogxK

المؤلفون: Veenvliet, Annemarijne R J, Garrelfs, Mark R, Udink Ten Cate, Floris E A, Ferdinandusse, Sacha, Denis, Simone, Fuchs, Sabine A, Schwantje, Marit, Geurtzen, Rosa, van Wegberg, Annemiek M J, Huigen, Marleen C D G, Kluijtmans, Leo A J, Wanders, Ronald J A, Derks, Terry G J, de Boer, Lonneke, Houtkooper, Riekelt H, de Vries, Maaike C, van Karnebeek, Clara D M

المساهمون: Arts-assistenten Kinderen, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Metabole ziekten onderzoek 2, MDL onderzoek 1, Cancer, Infection & Immunity

مصطلحات موضوعية: Cardiomyopathy, Fatty acid oxidation disorder, HADHB, Ketones, Long-chain 3-keto-acyl CoA thiolase (LCKAT), MTP, Resveratrol, Speckle-echocardiography, Genetics, Endocrinology, Molecular Biology

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/447896

الاتاحة: https://dspace.library.uu.nl/handle/1874/447896

المؤلفون: Blankestijn, Maaike, Bloks, Vincent W., Struik, Dicky, Huijkman, Nicolette, Kloosterhuis, Niels, Wolters, Justina C., Wanders, Ronald J. A., Vaz, Frederic M., Islinger, Markus, Kuipers, Folkert, van de Sluis, Bart, Groen, Albert K., Verkade, Henkjan J., Jonker, Johan W.

المصدر: Blankestijn , M , Bloks , V W , Struik , D , Huijkman , N , Kloosterhuis , N , Wolters , J C , Wanders , R J A , Vaz , F M , Islinger , M , Kuipers , F , van de Sluis , B , Groen , A K , Verkade , H J & Jonker , J W 2022 , ' Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism ' , Scientific Reports , vol. 12 , no. 1 , 2512 . https://doi.org/10.1038/s41598-022-06479-y

مصطلحات موضوعية: ACTIVATED RECEPTOR-ALPHA, METHYLACYL-COA RACEMASE, BILE-ACID SYNTHESIS, CHAIN FATTY-ACID, PPAR-ALPHA, PHYTANIC ACID, PRISTANIC ACID, MOUSE MODELS, PHYTOL, GENE

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/e7eef6b5-4c05-4dcf-b2fd-758f30a5746e
https://research.rug.nl/en/publications/e7eef6b5-4c05-4dcf-b2fd-758f30a5746e
https://doi.org/10.1038/s41598-022-06479-y
https://pure.rug.nl/ws/files/204287274/s41598_022_06479_y.pdf