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1دورية أكاديمية
المؤلفون: Daniël P. de Bruyn, Michiel Bongaerts, Ramon Bonte, Jolanda Vaarwater, Magda A. Meester-Smoor, Robert M. Verdijk, Dion Paridaens, Nicole C. Naus, Annelies de Klein, George J. G. Ruijter, Emine Kiliç, Erwin Brosens
المصدر: International Journal of Molecular Sciences; Volume 24; Issue 6; Pages: 5077
مصطلحات موضوعية: noninvasive, prognostication, biomarker, metabolomics, liquid biopsy
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Oncology; https://dx.doi.org/10.3390/ijms24065077Test
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2دورية أكاديمية
المؤلفون: Michiel Bongaerts, Purva Kulkarni, Alan Zammit, Ramon Bonte, Leo A. J. Kluijtmans, Henk J. Blom, Udo F. H. Engelke, David M. J. Tax, George J. G. Ruijter, Marcel J. T. Reinders
المصدر: Metabolites; Volume 13; Issue 1; Pages: 97
مصطلحات موضوعية: untargeted metabolomics, outlier detection, anomaly detection, one-class methods, IEM, inborn errors of metabolism
وصف الملف: application/pdf
العلاقة: Frontiers in Metabolomics; https://dx.doi.org/10.3390/metabo13010097Test
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3دورية أكاديمية
المؤلفون: Marne C. Hagemeijer, Esmee Oussoren, George J. G. Ruijter, Willem Onkenhout, Hidde H. Huidekoper, Merel S. Ebberink, Hans R. Waterham, Sacha Ferdinandusse, Maaike C. deVries, Marleen C. D. G. Huigen, Leo A. J. Kluijtmans, Karlien L. M. Coene, Henk J Blom
المصدر: JIMD Reports, Vol 61, Iss 1, Pp 12-18 (2021)
مصطلحات موضوعية: MADD, newborn screening, riboflavin deficiency, VLCADD, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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4دورية أكاديمية
المؤلفون: Karlien L. M. Coene, Corrie Timmer, Susan M. I. Goorden, Amber E. tenHoedt, Leo A. J. Kluijtmans, Mirian C. H. Janssen, Alexander J. M. Rennings, Hubertus C. M. T. Prinsen, Mirjam M. C. Wamelink, George J. G. Ruijter, Irene M. L. W. Körver‐Keularts, M. Rebecca Heiner‐Fokkema, Francjan J. vanSpronsen, Carla E. Hollak, Frédéric M. Vaz, Annet M. Bosch, Marleen C. D. G. Huigen
المصدر: JIMD Reports, Vol 58, Iss 1, Pp 70-79 (2021)
مصطلحات موضوعية: bloodspot, DBS, hyperphenylalaninemia, laboratory variation, measurement, phenylalanine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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5دورية أكاديمية
المؤلفون: Abraham J. Paredes-Fuentes, Clara Oliva, Raquel Montero, Patricia Alcaide, George J. G. Ruijter, Judit García-Villoria, Pedro Ruiz-Sala, Rafael Artuch
المصدر: Antioxidants; Volume 11; Issue 3; Pages: 528
مصطلحات موضوعية: coenzyme Q 10, HPLC with electrochemical detection, electrochemical cells, external quality control, ERNDIM
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Health Outcomes of Antioxidants and Oxidative Stress; https://dx.doi.org/10.3390/antiox11030528Test
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6
المؤلفون: Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Capo, Evita Medici van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Geert Geeven, Monique T. Mulder, George J. G. Ruijter, Dieter Lütjohann, Edwin H. Jacobs, Henry Houlden, Alistair T. Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed AlMuhaizea, Dilek Colak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Peter Bauer, Arjan Bouman, Lies H. Hoefsloot, Tjakko J. van Ham, Mahmoud Issa, Maha S. Zaki, Joseph G. Gleeson, Rob Willemsen, Namik Kaya, Stefan T. Arold, Reza Maroofian, Leslie E. Sanderson, Tahsin Stefan Barakat
المساهمون: Clinical Genetics, Neurology, Internal Medicine
المصدر: AMFR consortium, Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, N A, van der Linde, H C, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, E M, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, M T, Ruijter, G J G, Lütjohann, D, Jacobs, E H, Houlden, H, Pagnamenta, A T, Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, T B, Abbas, S, Umair, M, AlMuhaizea, M, Colak, D, AlQudairy, H, Alsagob, M, Pereira, C, Trunzo, R, Karageorgou, V, Bertoli-Avella, A M, Bauer, P, Bouman, A, Hoefsloot, L H, van Ham, T J, Issa, M, Zaki, M S, Gleeson, J G, Willemsen, R, Kaya, N, Arold, S T & Maroofian, R 2023, ' AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model ', Acta Neuropathologica, vol. 146, no. 2, pp. 353-368 . https://doi.org/10.1007/s00401-023-02579-9Test
Acta Neuropathologica. Springer-Verlagمصطلحات موضوعية: Cellular and Molecular Neuroscience, AMFR, Zebrafish disease modeling, Neurology, Whole genome sequencing, Precision medicine, Genetics, Hereditary spastic paraplegia, Cholesterol metabolism, Statin, Neurology (clinical), Pathology and Forensic Medicine
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1fc78cc6dfddfc3f598c41b1aba5238Test
https://doi.org/10.1007/s00401-023-02579-9Test -
7دورية أكاديمية
المؤلفون: Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Edwin H. Jacobs, Esmee Oussoren, Ans T. van der Ploeg, Margreet A. E. M. Wagenmakers, Robert M. W. Hofstra, Henk J. Blom, Marcel J. T. Reinders, George J. G. Ruijter
المصدر: Metabolites, Vol 11, Iss 8, p 8 (2020)
مصطلحات موضوعية: untargeted metabolomics, inborn errors of metabolism, normalization, internal standards, batch effects, Microbiology, QR1-502
العلاقة: https://www.mdpi.com/2218-1989/11/1/8Test; https://doaj.org/toc/2218-1989Test; https://doaj.org/article/547c2b9da39144a7b76688fd06dbf092Test
الإتاحة: https://doi.org/10.3390/metabo11010008Test
https://doaj.org/article/547c2b9da39144a7b76688fd06dbf092Test -
8
المؤلفون: Marne C. Hagemeijer, Jeroen C. van den Bosch, Michiel Bongaerts, Edwin H. Jacobs, Johanna M. P. van den Hout, Esmee Oussoren, George J. G. Ruijter
المساهمون: Clinical Genetics, Pediatrics
المصدر: Journal of Inherited Metabolic Disease, 46(2), 206-219. Springer Netherlands
مصطلحات موضوعية: Genetics, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0b9c70f5f7449b302e79db2c2a9ae45Test
https://pure.eur.nl/en/publications/2c037acc-9f86-40d9-adfb-4a386ea040a6Test -
9دورية أكاديمية
المؤلفون: Ramon Bonte, Michiel Bongaerts, Serwet Demirdas, Janneke G. Langendonk, Hidde H. Huidekoper, Monique Williams, Willem Onkenhout, Edwin H. Jacobs, Henk J. Blom, George J. G. Ruijter
المصدر: Metabolites; Volume 9; Issue 12; Pages: 289
مصطلحات موضوعية: metabolomics, inborn errors of metabolism, LC-MS, HRAM-MS, Orbitrap, PFPP, IEM, organic aciduria, urea cycle defects, PKU
وصف الملف: application/pdf
العلاقة: Endocrinology and Clinical Metabolic Research; https://dx.doi.org/10.3390/metabo9120289Test
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10
المؤلفون: Olaf Uhl, Rama J. Wahab, Romy Gaillard, Engy Shokry, Janine F. Felix, Berthold Koletzko, Vincent W. V. Jaddoe, Ellis Voerman, Linda Marchioro, George J. G. Ruijter
المساهمون: Pediatrics, Erasmus MC other, Clinical Genetics
المصدر: Journal of Clinical Endocrinology and Metabolism, 107(1), E315-E327. Endocrine Society
The Journal of Clinical Endocrinology and Metabolismمصطلحات موضوعية: obesity, Endocrinology, Diabetes and Metabolism, Metabolite, Clinical Biochemistry, Fatty Acids, Nonesterified, Biochemistry, Body Mass Index, Obesity, Maternal, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Blood serum, Pregnancy, Risk Factors, Birth Weight, Prospective Studies, Amino Acids, Phospholipids, 2. Zero hunger, chemistry.chemical_classification, 0303 health sciences, Gestational age, metabolomics, Pregnancy Trimester, Second, Female, Generation R, AcademicSubjects/MED00250, Maternal Age, medicine.drug, Adult, medicine.medical_specialty, Pregnancy Trimester, Third, 030209 endocrinology & metabolism, Context (language use), 03 medical and health sciences, SDG 3 - Good Health and Well-being, Carnitine, Internal medicine, medicine, Humans, Online Only Articles, Clinical Research Articles, 030304 developmental biology, business.industry, Biochemistry (medical), Fatty acid, medicine.disease, birth complications, chemistry, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e7ea9b4eaef7437eaa222576adc7ddeTest
http://www.scopus.com/inward/record.url?scp=85121827959&partnerID=8YFLogxKTest