Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients von Verly, Iedan R.N, van Kuilenburg, André B.P, Abeling, Nico G.G.M, Goorden, Susan M.I, Fiocco, Marta, Vaz, Frédéric M, van Noesel, Max M, Zwaan, C. Michel, Kaspers, GertJan L, Merks, Johannes H.M, Caron, Huib N, Tytgat, Godelieve A.M

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Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders von Jaspers, Yorrick R J, Ferdinandusse, Sacha, Dijkstra, Inge M E, Barendsen, Rinse Willem, van Lenthe, Henk, Kulik, Wim, Engelen, Marc, Goorden, Susan M I, Vaz, Frédéric M, Kemp, Stephan

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Capecitabine‐based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency von Henricks, Linda M., Siemerink, Ester J.M., Rosing, Hilde, Meijer, Judith, Goorden, Susan M.I., Polstra, Abeltje M., Zoetekouw, Lida, Cats, Annemieke, Schellens, Jan H.M., van Kuilenburg, André B.P.

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Development of a Biosimilar of Agalsidase Beta for the Treatment of Fabry Disease: Preclinical Evaluation von van Kuilenburg, André B. P., Hollak, Carla E. M., Travella, Ana, Jacobs, Melisa, Gentilini, Lucas D., Leen, René, der Vlugt, Karen M. M. Ghauharali-van, Stet, Femke S. Beers, Goorden, Susan M. I., van der Veen, Sanne, Criscuolo, Marcelo, Papouchado, Mariana

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Mammalian target of rapamycin complex I (mTORC1) activity in ras homologue enriched in brain (Rheb)-deficient mouse embryonic fibroblasts von Groenewoud, Marlous J, Goorden, Susan M I, Kassies, Jorien, Pellis-van Berkel, Wendy, Lamb, Richard F, Elgersma, Ype, Zwartkruis, Fried J T

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Skin biomarkers predict development of atopic dermatitis in infancy von Rinnov, Maria Rasmussen, Halling, Anne‐Sofie, Gerner, Trine, Ravn, Nina Haarup, Knudgaard, Mette Hjorslev, Trautner, Simon, Goorden, Susan M. I., Ghauharali‐van der Vlugt, Karen J. M., Stet, Femke S., Skov, Lone, Thomsen, Simon Francis, Egeberg, Alexander, Rosted, Aske L. L., Petersen, Troels, Jakasa, Ivone, Riethmüller, Christoph, Kezic, Sanja, Thyssen, Jacob P.

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An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio von Vaz, Frédéric M., Lenthe, Henk, Vervaart, Martin A. T., Stet, Femke S., Klinkspoor, Johanne H., Vernon, Hilary J., Goorden, Susan M. I., Houtkooper, Riekelt H., Kulik, Willem, Wanders, Ronald J. A.

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Early Risk Stratification for Natural Disease Course in Fabry Patients Using Plasma Globotriaosylsphingosine Levels von van der Veen, Sanne J, Sayed, Mohamed El, Hollak, Carla E M, Brands, Marion M, Snelder, C Khya S, Boekholdt, S Matthijs, Vogt, Liffert, Goorden, Susan M I, van Kuilenburg, André B P, Langeveld, Mirjam

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Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers von Eskes, Eline C.B., Sjouke, Barbara, Vaz, Frédéric M., Goorden, Susan M.I., van Kuilenburg, André B.P., Aerts, Johannes M.F.G., Hollak, Carla E.M.

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Altered Levels of Sphingosine, Sphinganine and Their Ceramides in Atopic Dermatitis Are Related to Skin Barrier Function, Disease Severity and Local Cytokine Milieu von Toncic, Ruzica Jurakic, Jakasa, Ivone, Hadzavdic, Suzana Ljubojevic, Goorden, Susan Mi, Vlugt, Karen Jm Ghauharali-van der, Stet, Femke S, Balic, Anamaria, Petkovic, Mikela, Pavicic, Borna, Zuzul, Kristina, Marinovic, Branka, Kezic, Sanja

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Sex‐specific newborn screening for X‐linked adrenoleukodystrophy von Albersen, Monique, Beek, Samantha L., Dijkstra, Inge M. E., Alders, Mariëlle, Barendsen, Rinse W., Bliek, Jet, Boelen, Anita, Ebberink, Merel S., Ferdinandusse, Sacha, Goorden, Susan M. I., Heijboer, Annemieke C., Jansen, Mandy, Jaspers, Yorrick R. J., Metgod, Ingrid, Salomons, Gajja S., Vaz, Frédéric M., Verschoof‐Puite, Rendelien K., Visser, Wouter F., Dekkers, Eugènie, Engelen, Marc, Kemp, Stephan

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Children with atopic dermatitis show increased activity of β‐glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine mi... von Kezic, Sanja, McAleer, Maeve A., Jakasa, Ivone, Goorden, Susan M.I., Vlugt, Karen Ghauharali‐van, Beers‐Stet, Femke S., Meijer, Judith, Roelofsen, Jeroen, Nieman, Monique M., Kuilenburg, André B.P., Irvine, Alan D.

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A novel troponin I rule-out value below the upper reference limit for acute myocardial infarction von Goorden, Susan M I, van Engelen, Rudi A, Wong, Liza S M, van der Ploeg, Tjeerd, Verdel, Gerard J E, Buijs, Madelon M

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Contributions of amino acid, acylcarnitine and sphingolipid profiles to type 2 diabetes risk among South-Asian Surinamese and Dutch adults von Muilwijk, Mirthe, Goorden, Susan M I, Celis-Morales, Carlos, Hof, Michel H, Ghauharali-van der Vlugt, Karen, Beers-Stet, Femke S, Gill, Jason M R, Vaz, Frédéric M, van Valkengoed, Irene G M

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Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency von Henricks, Linda M, Siemerink, Ester J M, Rosing, Hilde, Meijer, Judith, Goorden, Susan M I, Polstra, Abeltje M, Zoetekouw, Lida, Cats, Annemieke, Schellens, Jan H M, van Kuilenburg, André B P

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Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation von Coene, Karlien L. M., Timmer, Corrie, Goorden, Susan M. I., Hoedt, Amber E., Kluijtmans, Leo A. J., Janssen, Mirian C. H., Rennings, Alexander J. M., Prinsen, Hubertus C. M. T., Wamelink, Mirjam M. C., Ruijter, George J. G., Körver‐Keularts, Irene M. L. W., Heiner‐Fokkema, M. Rebecca, Spronsen, Francjan J., Hollak, Carla E., Vaz, Frédéric M., Bosch, Annet M., Huigen, Marleen C. D. G.

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Mammalian Target of Rapamycin Complex I (mTORC1) Activity in Ras Homologue Enriched in Brain (Rheb)-Deficient Mouse Embryonic Fibroblasts: e81649 von Groenewoud, Marlous J, Goorden, Susan MI, Kassies, Jorien, Berkel, Wendy Pellis-van, Lamb, Richard F, Elgersma, Ype, Zwartkruis, Fried JT

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Sex differences in the association of sphingolipids with age in Dutch and South-Asian Surinamese living in Amsterdam, the Netherlands von Muilwijk, Mirthe, Callender, Nardie, Goorden, Susan, Vaz, Frédéric M, van Valkengoed, Irene G M

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PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex von Alves, Maria M., Fuhler, Gwenny M., Queiroz, Karla C.S., Scholma, Jetse, Goorden, Susan, Anink, Jasper, Arnold Spek, C., Hoogeveen-Westerveld, Marianne, Bruno, Marco J., Nellist, Mark, Elgersma, Ype, Aronica, Eleonora, Peppelenbosch, Maikel P.

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Mind the B2: Life-Threatening Neonatal Complications of a Strict Vegan Diet during Pregnancy von Jaeger, Bregje, Corpeleijn, Willemijn, Dijsselhof, Monique, Goorden, Susan, Haverkamp, Jorien, Langeveld, Mirjam, Waterham, Hans, Westerbeek, Elisabeth, Bosch, Annet M.

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