Skin biomarkers predict development of atopic dermatitis in infancy
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.
Published in Allergy (Copenhagen) (01.03.2023)
Published in Allergy (Copenhagen) (01.03.2023)
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An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio
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.
Published in Journal of inherited metabolic disease (01.01.2022)
Published in Journal of inherited metabolic disease (01.01.2022)
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Sex‐specific newborn screening for X‐linked adrenoleukodystrophy
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
Published in Journal of inherited metabolic disease (01.01.2023)
Published in Journal of inherited metabolic disease (01.01.2023)
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Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders
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
Published in Frontiers in cell and developmental biology (29.07.2020)
Published in Frontiers in cell and developmental biology (29.07.2020)
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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 milieu
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.
Published in British journal of dermatology (1951) (01.06.2022)
Published in British journal of dermatology (1951) (01.06.2022)
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Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients
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
Published in European journal of cancer (1990) (01.02.2017)
Published in European journal of cancer (1990) (01.02.2017)
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Capecitabine‐based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency
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.
Published in International journal of cancer (15.01.2018)
Published in International journal of cancer (15.01.2018)
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Development of a Biosimilar of Agalsidase Beta for the Treatment of Fabry Disease: Preclinical Evaluation
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
Published in Drugs in R&D (01.06.2023)
Published in Drugs in R&D (01.06.2023)
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Contributions of amino acid, acylcarnitine and sphingolipid profiles to type 2 diabetes risk among South-Asian Surinamese and Dutch adults
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
Published in BMJ open diabetes research & care (01.05.2020)
Published in BMJ open diabetes research & care (01.05.2020)
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Mammalian target of rapamycin complex I (mTORC1) activity in ras homologue enriched in brain (Rheb)-deficient mouse embryonic fibroblasts
Groenewoud, Marlous J, Goorden, Susan M I, Kassies, Jorien, Pellis-van Berkel, Wendy, Lamb, Richard F, Elgersma, Ype, Zwartkruis, Fried J T
Published in PloS one (26.11.2013)
Published in PloS one (26.11.2013)
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Early Risk Stratification for Natural Disease Course in Fabry Patients Using Plasma Globotriaosylsphingosine Levels
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
Published in Clinical journal of the American Society of Nephrology (01.10.2023)
Published in Clinical journal of the American Society of Nephrology (01.10.2023)
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Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers
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.
Published in Molecular genetics and metabolism (01.05.2020)
Published in Molecular genetics and metabolism (01.05.2020)
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A novel troponin I rule-out value below the upper reference limit for acute myocardial infarction
Goorden, Susan M I, van Engelen, Rudi A, Wong, Liza S M, van der Ploeg, Tjeerd, Verdel, Gerard J E, Buijs, Madelon M
Published in Heart (British Cardiac Society) (01.11.2016)
Published in Heart (British Cardiac Society) (01.11.2016)
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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
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
Published in International journal of molecular sciences (13.03.2020)
Published in International journal of molecular sciences (13.03.2020)
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Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation
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.
Published in JIMD reports (01.03.2021)
Published in JIMD reports (01.03.2021)
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Mammalian Target of Rapamycin Complex I (mTORC1) Activity in Ras Homologue Enriched in Brain (Rheb)-Deficient Mouse Embryonic Fibroblasts: e81649
Groenewoud, Marlous J, Goorden, Susan MI, Kassies, Jorien, Berkel, Wendy Pellis-van, Lamb, Richard F, Elgersma, Ype, Zwartkruis, Fried JT
Published in PloS one (01.11.2013)
Published in PloS one (01.11.2013)
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