Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start von Stelten, Bianca M.L, Huidekoper, Hidde H, van de Warrenburg, Bart P.C, Brilstra, Eva H, Hollak, Carla E.M, Haak, Harm.R, Kluijtmans, Leo A.J, Wevers, Ron A, Verrips, Aad

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Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype von Vaz, Frédéric M., Paulusma, Coen C., Huidekoper, Hidde, de Ru, Minke, Lim, Cynthia, Koster, Janet, Ho‐Mok, Kam, Bootsma, Albert H., Groen, Albert K., Schaap, Frank G., Oude Elferink, Ronald P. J., Waterham, Hans R., Wanders, Ronald J.A.

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Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions von Ditters, Imke A. M., van Kooten, Harmke A., van der Beek, Nadine A. M. E., Hardon, Jacqueline F., Ismailova, Gamida, Brusse, Esther, Kruijshaar, Michelle E., van der Ploeg, Ans T., van den Hout, Johanna M. P., Huidekoper, Hidde H.

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Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study von Ditters, Imke A M, van der Beek, Nadine A M E, Brusse, Esther, van der Ploeg, Ans T, van den Hout, Johanna M P, Huidekoper, Hidde H

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A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios[S] von Vaz, Frédéric M., Bootsma, Albert H., Kulik, Willem, Verrips, Aad, Wevers, Ron A., Schielen, Peter C., DeBarber, Andrea E., Huidekoper, Hidde H.

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Quality of life in children with erythropoietic protoporphyria: a case–control study von Kluijver, Louisa G., Wensink, Debby, Wagenmakers, Margreet A. E. M., Huidekoper, Hidde H., Witters, Peter, Rymen, Daisy, Langendonk, Janneke G.

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Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots von Hong, Xinying, Daiker, Jessica, Sadilek, Martin, DeBarber, Andrea E., Chiang, John, Duan, Jie, Bootsma, Albert H., Huidekoper, Hidde H., Vaz, Frédéric M., Gelb, Michael H.

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Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns von Vaz, Frédéric M., Jamal, Youssra, Barto, Rob, Gelb, Michael H., DeBarber, Andrea E., Wevers, Ron A., Nelen, Marcel R., Verrips, Aad, Bootsma, Albert H., Bouva, Marelle J., Kleise, Nick, van der Zee, Walter, He, Tao, Salomons, Gajja S., Huidekoper, Hidde H.

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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders von Dekker, Jordy, Schot, Rachel, Bongaerts, Michiel, de Valk, Walter G., van Veghel-Plandsoen, Monique M., Monfils, Kathryn, Douben, Hannie, Elfferich, Peter, Kasteleijn, Esmee, van Unen, Leontine M.A., Geeven, Geert, Saris, Jasper J., van Ierland, Yvette, Verheijen, Frans W., van der Sterre, Marianne L.T., Sadeghi Niaraki, Farah, Smits, Daphne J., Huidekoper, Hidde H., Williams, Monique, Wilke, Martina, Verhoeven, Virginie J.M., Joosten, Marieke, Kievit, Anneke J.A., van de Laar, Ingrid M.B.H., Hoefsloot, Lies H., Hoogeveen-Westerveld, Marianne, Nellist, Mark, Mancini, Grazia M.S., van Ham, Tjakko J.

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Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores von Bongaerts, Michiel, Bonte, Ramon, Demirdas, Serwet, Huidekoper, Hidde H., Langendonk, Janneke, Wilke, Martina, de Valk, Walter, Blom, Henk J., Reinders, Marcel J.T., Ruijter, George J.G.

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Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study von Rijt, Willemijn J., Ferdinandusse, Sacha, Giannopoulos, Panagiotis, Ruiter, Jos P. N., Boer, Lonneke, Bosch, Annet M., Huidekoper, Hidde H., Rubio‐Gozalbo, M. Estela, Visser, Gepke, Williams, Monique, Wanders, Ronald J. A., Derks, Terry G. J.

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Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment von Huidekoper, Hidde H., Vaz, Frédéric M., Verrips, Aad, Bosch, Annet M.

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Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy von Schwantje, Marit, Ebberink, Merel S., Doolaard, Mirjam, Ruiter, Jos P. N., Fuchs, Sabine A., Darin, Niklas, Hedberg‐Oldfors, Carola, Régal, Luc, Donker Kaat, Laura, Huidekoper, Hidde H., Olpin, Simon, Cole, Duncan, Moat, Stuart J., Visser, Gepke, Ferdinandusse, Sacha

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Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways von Hermans, Merel E., Weeghel, Michel, Vaz, Frédéric M., Ferdinandusse, Sacha, Hollak, Carla E. M., Huidekoper, Hidde H., Janssen, Mirian C. H., Kuilenburg, André B. P., Pras‐Raves, Mia L., Wamelink, Mirjam M. C., Wanders, Ronald J. A., Welsink‐Karssies, Mendy M., Bosch, Annet M.

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Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis von Stelten, Bianca M. L., Bonnot, Olivier, Huidekoper, Hidde H., van Spronsen, Francjan J., van Hasselt, Peter M., Kluijtmans, Leo A. J., Wevers, Ron A., Verrips, Aad

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Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review von Ditters, Imke A. M, van Kooten, Harmke A, van der Beek, Nadine A. M. E, van der Ploeg, Ans T, Huidekoper, Hidde H, van den Hout, Johanna M. P

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Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform von Bonte, Ramon, Bongaerts, Michiel, Demirdas, Serwet, Langendonk, Janneke G, Huidekoper, Hidde H, Williams, Monique, Onkenhout, Willem, Jacobs, Edwin H, Blom, Henk J, Ruijter, George J G

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Quantification of naive and memory T-cell turnover during HIV-1 infection von Vrisekoop, Nienke, Drylewicz, Julia, Van Gent, Rogier, Mugwagwa, Tendai, Van Lelyveld, Steven F L, Veel, Ellen, Otto, Sigrid A, Ackermans, Mariëtte T, Vermeulen, Joost N, Huidekoper, Hidde H, Prins, Jan M, Miedema, Frank, de Boer, Rob J, Tesselaar, Kiki, Borghans, José A M

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Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype von Vaz, Frédéric M., Huidekoper, Hidde H., Paulusma, Coen C.

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The 1- 13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes von Welsink-Karssies, Mendy M, van Harskamp, Dewi, Ferdinandusse, Sacha, Hollak, Carla E M, Huidekoper, Hidde H, Janssen, Mirian C H, Kemper, E Marleen, Langendonk, Janneke G, Rubio-Gozalbo, M Estela, de Vries, Maaike C, Wijburg, Frits A, Schierbeek, Henk, Bosch, Annet M

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