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., 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: In BBA - Molecular and Cell Biology of Lipids March 2024 1869(2)

المؤلفون: Monda, Emanuele, Bakalakos, Athanasios, Syrris, Petros, Mohiddin, Saidi, Ferdinandusse, Sacha, Murphy, Elaine, Elliott, Perry Mark

المصدر: In European Journal of Medical Genetics December 2023 66(12)

المؤلفون: Waterham, Hans R., Koster, Janet, Ebberink, Merel S., Ješina, Pavel, Zeman, Jiri, Nosková, Lenka, Kmoch, Stanislav, Devic, Perrine, Cheillan, David, Wanders, Ronald J.A., Ferdinandusse, Sacha

المصدر: In Genetics in Medicine November 2023 25(11)

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: Berner, Jakob, van de Wetering, Cheryl, Jimenez Heredia, Raul, Rashkova, Christina, Ferdinandusse, Sacha, Koster, Janet, Weiss, Johannes G., Frohne, Alexandra, Giuliani, Sarah, Waterham, Hans R., Castanon, Irinka, Brunner, Jürgen, Boztug, Kaan

المصدر: In The Journal of Allergy and Clinical Immunology October 2023 152(4):1025-1031

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المؤلفون: Vaz, Frédéric M.^Aff6, Cassiman, David^Aff7, Ferdinandusse, Sacha^Aff6

المساهمون: Blau, Nenad, editor^Aff1, Dionisi Vici, Carlo, editor^Aff2, Ferreira, Carlos R., editor^Aff3, Vianey-Saban, Christine, editor^Aff4, van Karnebeek, Clara D. M., editor^Aff5

المصدر: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. :1095-1112

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