Search Results - "Goorden, Susan M I"

Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients by 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

“…Abstract Introduction Neuroblastoma (NBL) accounts for 10% of the paediatric malignancies and is responsible for 15% of the paediatric cancer-related deaths…”
Get full text

Development of a Biosimilar of Agalsidase Beta for the Treatment of Fabry Disease: Preclinical Evaluation by 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

“…Background and Objective Fabry disease (FD) is a rare lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (aGal A). Since 2001,…”
Get full text

Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders by 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

“…Peroxisomes are subcellular organelles that are involved in various important physiological processes such as the oxidation of fatty acids and the biosynthesis…”
Get full text

Capecitabine‐based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency by 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.

“…Fluoropyrimidines are frequently used anti‐cancer drugs. It is known that patients with reduced activity of dihydropyrimidine dehydrogenase (DPD), the key…”
Get full text

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

“…The Ras-like GTPase Rheb has been identified as a crucial activator of mTORC1. Activation most likely requires a direct interaction between Rheb and mTOR, but…”
Get full text

Skin biomarkers predict development of atopic dermatitis in infancy by 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.

“…Background There is currently no insight into biomarkers that can predict the onset of pediatric atopic dermatitis (AD). Methods Nested in a prospective birth…”
Get full text

Early Risk Stratification for Natural Disease Course in Fabry Patients Using Plasma Globotriaosylsphingosine Levels by 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

“…Fabry disease is a very heterogeneous X-linked lysosomal storage disease. Disease manifestations in the kidneys, heart, and brain vary greatly, even between…”
Get full text

An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio by 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.

“…Barth syndrome is an X‐linked disorder characterized by cardiomyopathy, skeletal myopathy, and neutropenia, caused by deleterious variants in TAFAZZIN. This…”
Get full text

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers by 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.

“…Acid Sphingomyelinase Deficiency (ASMD), or Niemann-Pick type A/B disease, is a rare lipid storage disorder leading to accumulation of sphingomyelin and its…”
Get full text

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy by 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

“…Males with X‐linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an…”
Get full text

Altered Levels of Sphingosine, Sphinganine and Their Ceramides in Atopic Dermatitis Are Related to Skin Barrier Function, Disease Severity and Local Cytokine Milieu by 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

“…Dysfunctional skin barrier plays a key role in the pathophysiology of atopic dermatitis (AD), a common inflammatory skin disease. Altered composition of…”
Get full text

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 by 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.

“…Summary Background Atopic dermatitis (AD) is characterized by immune dysregulations and an impaired skin barrier, including abnormalities in lipid…”
Get full text

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

“…To determine cut-off values for a recently introduced high sensitive cardiac troponin assay (hs-cTnI) which provide similar sensitivity, specificity, negative…”
Get more information

Contributions of amino acid, acylcarnitine and sphingolipid profiles to type 2 diabetes risk among South-Asian Surinamese and Dutch adults by 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

“…IntroductionPeople of South Asian origin are at high risk of type 2 diabetes (T2D), but the underpinning mechanisms are not fully understood. We determined…”
Get full text

Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation by 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.

“…Background Reliable measurement of phenylalanine (Phe) is a prerequisite for adequate follow‐up of phenylketonuria (PKU) patients. However, previous studies…”
Get full text

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

“…The Ras-like GTPase Rheb has been identified as a crucial activator of mTORC1. Activation most likely requires a direct interaction between Rheb and mTOR, but…”
Get full text