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: Zhu, Siting, Chen, Ze’e, Zhu, Mason, Shen, Ying, Leon, Leonardo J, Chi, Liguo, Spinozzi, Simone, Tan, Changming, Gu, Yusu, Nguyen, Anh, Zhou, Yi, Feng, Wei, Vaz, Frédéric M, Wang, Xiaohong, Gustafsson, Asa B, Evans, Sylvia M, Kunfu, Ouyang, Fang, Xi

المصدر: Circulation Heart Failure. 14(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Medical Physiology, Cardiovascular Medicine and Haematology, Heart Disease, Cardiovascular, Pediatric, Congenital Structural Anomalies, Rare Diseases, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Animals, Barth Syndrome, Cardiolipins, Cardiomyopathies, Disease Models, Animal, Heart Failure, Mice, Knockout, Mitochondria, Mutation, Transcription Factors, Mice, Barth syndrome, cardiolipin, cardiomyopathy, mice, mitochondria, Biochemistry and Cell Biology, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology, Medical physiology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7k83h45g
https://escholarship.org/content/qt7k83h45g/qt7k83h45g.pdf

المؤلفون: Ferdinandusse, Sacha, McWalter, Kirsty, Te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M, Ruiter, Jos PN, van Lint, Alida EM, Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J, Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L, Sell, Susan L, Nowak, Catherine B, Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V, Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A, Macnamara, Ellen F, Wolfe, Lynne, Undiagnosed Diseases Network, Waisfisz, Quinten, Zwijnenburg, Petra JG, Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C, van Kampen, Antoine HC, Wanders, Ronald JA, Waterham, Hans R, Cassiman, David, Vaz, Frédéric M

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4)

مصطلحات موضوعية: Undiagnosed Diseases Network, Humans, Spastic Paraplegia, Hereditary, Ethers, Aldehyde Oxidoreductases, Lipids, Phenotype, Neurosciences, Genetics, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Neurological, Genetics & Heredity, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/434856qx

المؤلفون: Jaspers, Yorrick R. J., Meyer, Sven W., Pras-Raves, Mia L., Dijkstra, Inge M. E., Wever, Eric J. M., Dane, Adrie D., van Klinken, Jan-Bert, Salomons, Gajja S., Houtkooper, Riekelt H., Engelen, Marc, Kemp, Stephan, van Weeghel, Michel, Vaz, Frédéric M.

المصدر: Jaspers , Y R J , Meyer , S W , Pras-Raves , M L , Dijkstra , I M E , Wever , E J M , Dane , A D , van Klinken , J-B , Salomons , G S , Houtkooper , R H , Engelen , M , Kemp , S , van Weeghel , M & Vaz , F M 2024 , ' Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry ' , Journal of Lipid Research , vol. 65 , no. 6 June , 100567 . https://doi.org/10.1016/j.jlr.2024.100567

الاتاحة: https://research.vumc.nl/en/publications/53b5359e-02ea-4cf4-be4c-09d6ed44ce8e
https://doi.org/10.1016/j.jlr.2024.100567
http://www.scopus.com/inward/record.url?scp=85196964094&partnerID=8YFLogxK

المؤلفون: Schomakers, Bauke V., Jillings, Sonia L., van Weeghel, Michel, Vaz, Frédéric M., Salomons, Gajja S., Janssens, Georges E., Houtkooper, Riekelt H.

المصدر: Schomakers , B V , Jillings , S L , van Weeghel , M , Vaz , F M , Salomons , G S , Janssens , G E & Houtkooper , R H 2024 , ' Ophthalmic acid is a glutathione regulating tripeptide ' , FEBS Journal , vol. 291 , no. 15 , pp. 3317-3330 . https://doi.org/10.1111/febs.17061

الاتاحة: https://research.vumc.nl/en/publications/d6ed503b-c4c0-46f7-8dda-e9a71758e017
https://doi.org/10.1111/febs.17061
http://www.scopus.com/inward/record.url?scp=85182812706&partnerID=8YFLogxK

المؤلفون: van Karnebeek, Clara D. M., Tarailo-Graovac, Maja, Leen, René, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drögemöller, Britt I., Grootemaat, Anita E., van der Wel, Nicole N., Dobritzsch, Doreen, Roseboom, Winfried, Schomakers, Bauke V., Jaspers, Yorrick R. J., Zoetekouw, Lida, Roelofsen, Jeroen, Ferreira, Carlos R., van der Lee, Robin, Ross, Colin J., Kochan, Jakub, McIntyre, Rebecca L., van Klinken, Jan B., van Weeghel, Michel, Kramer, Gertjan, Weschke, Bernhard, Labrune, Philippe, Willemsen, Michèl A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frédéric M., Wassermann, Wyeth W., Houtkooper, Riekelt H., van Kuilenburg, André B. P.

المصدر: van Karnebeek , C D M , Tarailo-Graovac , M , Leen , R , Meinsma , R , Correard , S , Jansen-Meijer , J , Prykhozhij , S V , Pena , I A , Ban , K , Schock , S , Saxena , V , Pras-Raves , M L , Drögemöller , B I , Grootemaat , A E , van der Wel , N N , Dobritzsch , D , Roseboom , W , Schomakers , B V , Jaspers , Y R J , Zoetekouw , L , Roelofsen , J , Ferreira ....

الاتاحة: https://research.vumc.nl/en/publications/504f73d5-0b75-455e-b9c5-41f293789b8c
https://doi.org/10.1016/j.gim.2024.101104
http://www.scopus.com/inward/record.url?scp=85189951629&partnerID=8YFLogxK

المؤلفون: Hollander, Bibiche den, Rothuizen-Lindenschot, Marieke, Geertjens, Lisa, Vaz, Frédéric M., Brands, Marion M., Le, Hoang Lan, van Eeghen, Agnies M., van de Ven, Peter M., Cornel, Martina C., Jacobs, Bart A.W., Bruining, Hilgo, van Karnebeek, Clara D.

المصدر: Hollander , B D , Rothuizen-Lindenschot , M , Geertjens , L , Vaz , F M , Brands , M M , Le , H L , van Eeghen , A M , van de Ven , P M , Cornel , M C , Jacobs , B A W , Bruining , H & van Karnebeek , C D 2024 , ' Corrigendum to “Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation : Rationale and protocol for single patient (n-of-1) multiple cross-over trials” [Contemp. Clin. Trials Commun. 36 (2023)/ DOI:10.1016/j.conctc.2023.101233] (Contemporary Clinical Trials Communications ....

الاتاحة: https://research.vumc.nl/en/publications/edf5a90b-d189-4491-83be-3599492ddd8b
https://doi.org/10.1016/j.conctc.2024.101264
http://www.scopus.com/inward/record.url?scp=85184756377&partnerID=8YFLogxK

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: Dzobo, Kim E., Cupido, Arjen J., Mol, Barend M., Stiekema, Lotte C.A., Versloot, Miranda, Winkelmeijer, Maaike, Peter, Jorge, Pennekamp, Anne Marije, Havik, Stefan R., Vaz, Frédéric M., Van Weeghel, Michel, Prange, Koen H.M., Levels, Johannes H.M., De Winther, Menno P.J., Tsimikas, Sotirios, Groen, Albert K., Stroes, Erik S.G., De Kleijn, Dominique P.V., Kroon, Jeffrey

المساهمون: Onderzoek Precision medicine, Zorgeenheid Vaatchirurgie Medisch, Circulatory Health, Infection & Immunity

مصطلحات موضوعية: diglycerides, inflammation, lipidomics, lipoprotein(a), monocytes, Cardiology and Cardiovascular Medicine

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/451961

الاتاحة: https://dspace.library.uu.nl/handle/1874/451961

المؤلفون: Bouwhuis, Natalja, Polak, Yasmin, Schimmel, Anneliene M., Bijleveld, Yuma A., Giera, Martin A., Heijink, Marieke, Vaz, Frédéric M., Bootsma, Albert H., Berg-Lammers, Laureen A. ten, Swart, Noortje E.L., Hollak, Carla E.M., Jacobs, Bart A.W., Kemper, E. Marleen

المصدر: European Journal of Pharmaceutical Sciences ; page 106979 ; ISSN 0928-0987

الاتاحة: https://doi.org/10.1016/j.ejps.2024.106979
https://api.elsevier.com/content/article/PII:S0928098724002926?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0928098724002926?httpAccept=text/plain

المؤلفون: Christen, Matthias, Oevermann, Anna, Rupp, Stefan, Vaz, Frédéric M., Wever, Eric J.M., Braus, Barbara K., Jagannathan, Vidhya, Kehl, Alexandra, Hytönen, Marjo K., Lohi, Hannes, Leeb, Tosso

المساهمون: Medicum, Veterinary Biosciences, Department of Medical and Clinical Genetics, Helsinki One Health (HOH), Hannes Tapani Lohi / Principal Investigator, Veterinary Genetics

مصطلحات موضوعية: Animal model, Canis lupus familiaris, Inborn error of metabolism, Kennedy pathway, Neurology, Ophthalmology, Precision medicine, Genetics, developmental biology, physiology, Veterinary science

وصف الملف: application/pdf

Relation: This research project was supported by a grant from the Gesellschaft zur Förderung kynologischer Forschung e.V. (GKF), private donations from the Saarlooswolfhond-Club Deutschland e.V. and a private crowdfunding initiative supporting clinical and pathological examinations. HL was supported by HiLIFE and Jane and Aatos Erkko Foundation .; Christen , M , Oevermann , A , Rupp , S , Vaz , F M , Wever , E J M , Braus , B K , Jagannathan , V , Kehl , A , Hytönen , M K , Lohi , H & Leeb , T 2024 , ' PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration ' , Molecular Genetics and Metabolism , vol. 141 , no. 3 , 108149 . https://doi.org/10.1016/j.ymgme.2024.108149; ORCID: /0000-0003-1976-5874/work/153479360; http://hdl.handle.net/10138/571225; c04c5492-41c9-48ea-bb75-38a649a6bde0; 85183302396; 001175365800001

الاتاحة: http://hdl.handle.net/10138/571225

المؤلفون: Messina, Martina, Vaz, Frédéric M., Rahman, Shamima

المساهمون: Innovate UK

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

الاتاحة: https://doi.org/10.1002/jimd.12766
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12766

المؤلفون: Gatechompol, Sivaporn, Lutter, René, Vaz, Frédéric M., Ubolyam, Sasiwimol, Avihingsanon, Anchalee, Kerr, Stephen J., van Leth, Frank, Cobelens, Frank

المساهمون: HIV-NAT, Thai Red Cross AIDS Research Centre, Bangkok, Thailand, Department of Experimental Immunology, Amsterdam UMC and Amsterdam Infection and Immunity Institute, University of Amsterdam, Amsterdam, The Netherlands, Department of Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands., Department of Health Sciences, Vrije Universiteit Amsterdam, Amsterdam Public Health research institute, Amsterdam, The Netherlands, Department of Global Health and Amsterdam Institute for Global Health and Development, Amsterdam University Medical Centers location University of Amsterdam, Amsterdam, The Netherlands.

المصدر: BMC Infectious Diseases ; volume 24, issue 1 ; ISSN 1471-2334

الاتاحة: http://dx.doi.org/10.1186/s12879-024-09258-4
https://link.springer.com/content/pdf/10.1186/s12879-024-09258-4.pdf
https://link.springer.com/article/10.1186/s12879-024-09258-4/fulltext.html

المؤلفون: Zhu, Siting, Pang, Jing, Nguyen, Anh, Huynh, Helen, Lee, Sharon, Gu, Yusu, Vaz, Frederic M., Fang, Xi

المساهمون: National Institutes of Health, Children's Heart Foundation, American Heart Association Inc

المصدر: Journal of Molecular and Cellular Cardiology Plus ; volume 8, page 100076 ; ISSN 2772-9761

الاتاحة: http://dx.doi.org/10.1016/j.jmccpl.2024.100076
https://api.elsevier.com/content/article/PII:S2772976124000163?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2772976124000163?httpAccept=text/plain

المؤلفون: Thompson, William R., Manuel, Ryan, Abbruscato, Anthony, Carr, Jim, Campbell, John, Hornby, Brittany, Vaz, Frédéric M., Vernon, Hilary J.

المصدر: Genetics in Medicine ; page 101138 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2024.101138
https://api.elsevier.com/content/article/PII:S1098360024000716?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024000716?httpAccept=text/plain

المؤلفون: Sun, Miao, Kaminsky, Cornelia K., Deppe, Philip, Ilse, Mai-Britt, Vaz, Frédéric M., Plecko, Barbara, Lübke, Torben, Randolph, Linda M.

المصدر: Genes & Diseases ; volume 11, issue 3, page 101025 ; ISSN 2352-3042

الاتاحة: http://dx.doi.org/10.1016/j.gendis.2023.06.003
https://api.elsevier.com/content/article/PII:S2352304223002933?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352304223002933?httpAccept=text/plain

المؤلفون: van Beek, Sten M. M., Bruls, Yvonne M. H., Vanweert, Froukje, Fealy, Ciarán E., Connell, Niels J., Schaart, Gert, Moonen-Kornips, Esther, Jörgensen, Johanna A., Vaz, Frédéric M., Smeets, Ellen T. H. C., Joris, Peter J., Gemmink, Anne, Houtkooper, Riekelt H., Hesselink, Matthijs K. C., Bengtsson, Tore, 1970, Havekes, Bas, Schrauwen, Patrick, Hoeks, Joris

المصدر: Nature Communications. 14

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-217312
https://doi.org/10.1038/s41467-023-35798-5

المؤلفون: Eskes, Eline C B, van Dussen, Laura, Brands, Marion M M G, Vaz, Frédéric M, Aerts, Johannes M F G, van Kuilenburg, André B P, Sjouke, Barbara, Hollak, Carla E M

المصدر: J Inherit Metab Dis ; ISSN:1573-2665 ; Volume:48 ; Issue:1

مصطلحات موضوعية: biomarkers, chronic visceral ASMD, enzyme replacement therapy, start criteria

Relation: https://doi.org/10.1002/jimd.12789; https://pubmed.ncbi.nlm.nih.gov/39177062; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11670446/

الاتاحة: https://doi.org/10.1002/jimd.12789
https://pubmed.ncbi.nlm.nih.gov/39177062
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11670446/