Search Results - "Huidekoper, Hidde"

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start by 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

“…OBJECTIVETo evaluate the effect of chenodeoxycholic acid treatment on disease progression in cerebrotendinous xanthomatosis (CTX). METHODSIn this retrospective…”
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Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype by 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.

“…The enterohepatic circulation of bile salts is an important physiological route to recycle bile salts and ensure intestinal absorption of dietary lipids. The…”
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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 by 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.

“…Background Enzyme replacement therapy (ERT) with alglucosidase alfa is the treatment for patients with Pompe disease, a hereditary metabolic myopathy…”
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Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study by 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

“…Pompe disease is a lysosomal storage disease treated with life-long enzyme replacement therapy (ERT). Home-based ERT has been provided in the Netherlands since…”
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Quality of life in children with erythropoietic protoporphyria: a case–control study by Kluijver, Louisa G., Wensink, Debby, Wagenmakers, Margreet A. E. M., Huidekoper, Hidde H., Witters, Peter, Rymen, Daisy, Langendonk, Janneke G.

“…Erythropoietic protoporphyria (EPP) is an inherited metabolic disease that causes painful phototoxic reactions, starting in childhood. Studies have shown a…”
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Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots by 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.

“…Cerebrotendinous xanthomatosis (CTX) is a treatable hereditary disorder caused by the deficiency of sterol 27-hydroxylase, which is encoded by the CYP27A1…”
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A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios[S] by Vaz, Frédéric M., Bootsma, Albert H., Kulik, Willem, Verrips, Aad, Wevers, Ron A., Schielen, Peter C., DeBarber, Andrea E., Huidekoper, Hidde H.

“…Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis in which symptoms can be prevented if treatment…”
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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 by 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.

“…•CTX newborn screening is possible using only metabolite ratios.•Screening of 20,076 deidentified newborn blood spots showed no CTX screen positives.•CTX…”
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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders by 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.

“…For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management, predicting outcome, and counseling. Often, routine DNA-based tests fail…”
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Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies by Mazurkiewicz-Bełdzińska, Maria, Del Toro, Mireia, Haliloğlu, Göknur, Huidekoper, Hidde H, Kravljanac, Ružica, Mühlhausen, Chris, Andersen, Brian Nauheimer, Prpić, Igor, Striano, Pasquale, Auvin, Stéphane

“…Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric neurodegenerative condition, which is usually fatal by mid-adolescence. Seizures are…”
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Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores by 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.

“…The integration of metabolomics data with sequencing data is a key step towards improving the diagnostic process for finding the disease-causing genetic…”
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Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment by Huidekoper, Hidde H., Vaz, Frédéric M., Verrips, Aad, Bosch, Annet M.

“…We present a two-week old girl who was diagnosed with cerebrotendinous xanthomatosis (CTX), an inborn error of bile acid synthesis, after a diagnostic workup…”
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Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study by 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.

“…Summary Multiple acyl‐CoA dehydrogenase deficiency (MADD) is an ultra‐rare inborn error of mitochondrial fatty acid oxidation (FAO) and amino acid metabolism…”
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Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways by 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.

“…Classical galactosemia (CG) is one of the more frequent inborn errors of metabolism affecting approximately 1:40.000 people. Despite a life‐saving…”
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Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis by 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

“…Background Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene…”
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Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy by 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

“…Mitochondrial trifunctional protein (MTP) is involved in long‐chain fatty acid β‐oxidation (lcFAO). Deficiency of one or more of the enzyme activities as…”
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Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review by 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

“…Background: Pompe disease is a lysosomal storage disease characterised by skeletal and respiratory muscle weakness. Since 2006, enzyme replacement therapy…”
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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 by 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

“…Routine diagnostic screening of inborn errors of metabolism (IEM) is currently performed by different targeted analyses of known biomarkers. This approach is…”
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Quantification of naive and memory T-cell turnover during HIV-1 infection by 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

“…In HIV infection, the homeostasis of CD4 and CD8 T cells is dramatically disturbed, and several studies have pointed out that T-cell turnover rates are…”
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Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype by Vaz, Frédéric M, Huidekoper, Hidde H, Paulusma, Coen C

“…We present the first patient with a defect in the Na+-taurocholate cotransporting polypeptide SLC10A1 (NTCP), which plays a key role in the enterohepatic…”
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