المؤلفون: Gert W van Dijk, AAD VERRIPS, Michelle FM ten Brinck, Inge WH Verheijen, Jaron van de Wardt, Frouke AP Nijhuis

المصدر: BMJ Neurology Open, Vol 5, Iss 2 (2023)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://neurologyopen.bmj.com/content/5/2/e000426.fullTest; https://doaj.org/toc/2632-6140Test

الوصول الحر: https://doaj.org/article/17bac9f518344fb8b36fa0bf715ae593Test

المؤلفون: Soumia Majait, Emma C. E. Meessen, Frederic Maxime Vaz, E. Marleen Kemper, Samuel van Nierop, Steven W. Olde Damink, Frank G. Schaap, Johannes A. Romijn, Max Nieuwdorp, Aad Verrips, Filip Krag Knop, Maarten R. Soeters

المصدر: Nutrients, Vol 15, Iss 21, p 4625 (2023)

مصطلحات موضوعية: cerebrotendinous xanthomatosis, mixed meal test, glucagon-like peptide 1, fibroblast growth factor 19, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6643/15/21/4625Test; https://doaj.org/toc/2072-6643Test

الوصول الحر: https://doaj.org/article/30a1913f292d42df954fa2300b9ef17cTest

المؤلفون: Bianca M. L. Stelten, Maria Teresa Dotti, Aad Verrips, Bülent Elibol, Tzipora C. Falik-Zaccai, Kate Hanman, Andrea Mignarri, Belina Sithole, Robert D. Steiner, Surabhi Verma, Gilad Yahalom, Tanyel Zubarioglu, Fanny Mochel, Antonio Federico

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-18 (2021)

مصطلحات موضوعية: Cerebrotendinous xanthomatosis, CTX, Delphi, Diagnosis, Treatment, Prognosis, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/56eced4666ed4a9294999a269eca7839Test

المؤلفون: Eric P. Brass, Bianca M.L. Stelten, Aad Verrips

المصدر: JIMD Reports, Vol 56, Iss 1, Pp 105-111 (2020)

مصطلحات موضوعية: Cerebrotendinous xanthomatosis (CTX), Chenodeoxycholic acid (CDCA), diarrhea, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/60ecaf665d4244fdac8228c2992c6a71Test

المؤلفون: Frédéric M. Vaz, Albert H. Bootsma, Willem Kulik, Aad Verrips, Ron A. Wevers, Peter C. Schielen, Andrea E. DeBarber, Hidde H. Huidekoper

المصدر: Journal of Lipid Research, Vol 58, Iss 5, Pp 1002-1007 (2017)

مصطلحات موضوعية: bile acid metabolism, bile acids and salts biosynthesis, inborn errors of metabolism, tandem mass spectrometry, CYP27A1, Biochemistry, QD415-436

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0022227520338360Test; https://doaj.org/toc/0022-2275Test

الوصول الحر: https://doaj.org/article/149f04e1e52c4d299760cb20acaf0e0eTest

المؤلفون: Roderick PPWM Maas, Aad Verrips

المصدر: Cephalalgia Reports, Vol 1 (2018)

مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2515-8163Test

الوصول الحر: https://doaj.org/article/f48e7eb5086a4df1bffd1bfb9babd934Test

المؤلفون: Anusha van Samkar, Floriaan G. De Kleermaeker, Margot G. te Riele, Aad Verrips

المصدر: Tremor and Other Hyperkinetic Movements, Vol 7 (2017)

مصطلحات موضوعية: Diseases of the musculoskeletal system, RC925-935, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://tremorjournal.org/index.php/tremor/article/view/500Test; https://doaj.org/toc/2160-8288Test

الوصول الحر: https://doaj.org/article/d3577d1b69fc4a389f5db22b32d6ea45Test

المؤلفون: Anouke van Rumund, Aad Verrips, Wim I. M. Verhagen

المصدر: Frontiers in Neurology, Vol 8 (2017)

مصطلحات موضوعية: proptosis, orbital roof fracture, meningocele, pulsations, MRI imaging, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://journal.frontiersin.org/article/10.3389/fneur.2017.00290/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/fd8f611fe55b402889643fd2eb12ef10Test

المؤلفون: Frédéric M. Vaz, Youssra Jamal, Rob Barto, Michael H. Gelb, Andrea E. DeBarber, Ron A. Wevers, Marcel R. Nelen, Aad Verrips, Albert H. Bootsma, Marelle J. Bouva, Nick Kleise, Walter van der Zee, Tao He, Gajja S. Salomons, Hidde H. Huidekoper

المساهمون: Laboratory Genetic Metabolic Diseases, APH - Methodology, APH - Personalized Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory for General Clinical Chemistry, Graduate School, Amsterdam institute for Infection and Immunity, Amsterdam Cardiovascular Sciences, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience, Genetic Metabolic Diseases, Amsterdam Reproduction & Development (AR&D), Pediatrics

المصدر: Vaz, F M, Jamal, Y, Barto, R, Gelb, M H, DeBarber, A E, Wevers, R A, Nelen, M R, Verrips, A, Bootsma, A H, Bouva, M J, Kleise, N, van der Zee, W, He, T, Salomons, G S & Huidekoper, H H 2023, ' Newborn screening for Cerebrotendinous Xanthomatosis : A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns ', Clinica Chimica Acta, vol. 539, pp. 170-174 . https://doi.org/10.1016/j.cca.2022.12.011Test
Clinica chimica acta; international journal of clinical chemistry, 539, 170-174. Elsevier
Clinica Chimica Acta, 539, 170-174. Elsevier

مصطلحات موضوعية: Newborn screening, Tandem mass spectrometry, Cerebrotendinous Xanthomatosis, Metabolite ratios, Biochemistry (medical), Clinical Biochemistry, General Medicine, Biochemistry

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4fca79357ee71286b59ed2d208de6f1Test
http://www.scopus.com/inward/record.url?scp=85144254359&partnerID=8YFLogxKTest

المؤلفون: Jaron van de Wardt (11760938), Aad Verrips (11244474), Carlijn H.S. van Griensven (11773607), Jeroen J. J. van Eijk (745670)

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Hepatitis E, Phrenic nerve, Neuralgic Amyotrophy

العلاقة: https://figshare.com/articles/journal_contribution/Hepatitis_E_A_breathtaking_virus/17102576Test

الإتاحة: https://doi.org/10.6084/m9.figshare.17102576.v1Test