Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study
Arends, Maarten, Wanner, Christoph, Hughes, Derralynn, Mehta, Atul, Oder, Daniel, Watkinson, Oliver T, Elliott, Perry M, Linthorst, Gabor E, Wijburg, Frits A, Biegstraaten, Marieke, Hollak, Carla E
Published in Journal of the American Society of Nephrology (01.05.2017)
Published in Journal of the American Society of Nephrology (01.05.2017)
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Journal Article
Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle
Knottnerus, Suzan J. G., Bleeker, Jeannette C., Wüst, Rob C. I., Ferdinandusse, Sacha, IJlst, Lodewijk, Wijburg, Frits A., Wanders, Ronald J. A., Visser, Gepke, Houtkooper, Riekelt H.
Published in Reviews in endocrine & metabolic disorders (01.03.2018)
Published in Reviews in endocrine & metabolic disorders (01.03.2018)
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Journal Article
Disease and patient characteristics in NP-C patients: findings from an international disease registry
Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé
Published in Orphanet journal of rare diseases (16.01.2013)
Published in Orphanet journal of rare diseases (16.01.2013)
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Journal Article
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
Clarke, Lorne A., Giugliani, Roberto, Guffon, Nathalie, Jones, Simon A., Keenan, Hillary A., Munoz‐Rojas, Maria V., Okuyama, Torayuki, Viskochil, David, Whitley, Chester B., Wijburg, Frits A., Muenzer, Joseph
Published in Clinical genetics (01.10.2019)
Published in Clinical genetics (01.10.2019)
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Journal Article
Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome
Rombach, Saskia M, Aerts, Johannes M F G, Poorthuis, Ben J H M, Groener, Johanna E M, Donker-Koopman, Wilma, Hendriks, Erik, Mirzaian, Mina, Kuiper, Sijmen, Wijburg, Frits A, Hollak, Carla E M, Linthorst, Gabor E
Published in PloS one (19.10.2012)
Published in PloS one (19.10.2012)
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Journal Article
Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study
Conijn, Thirsa, Haverman, Lotte, Wijburg, Frits A, De Roos, Carlijn
Published in Orphanet journal of rare diseases (10.03.2021)
Published in Orphanet journal of rare diseases (10.03.2021)
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Journal Article
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
Aerts, Johannes M, Groener, Johanna E, Kuiper, Sijmen, Donker-Koopman, Wilma E, Strijland, Anneke, Ottenhoff, Roelof, van Roomen, Cindy, Mirzaian, Mina, Wijburg, Frits A, Linthorst, Gabor E, Vedder, Anouk C, Rombach, Saskia M, Cox-Brinkman, Josanne, Somerharju, Pentti, Boot, Rolf G, Hollak, Carla E, Brady, Roscoe O, Poorthuis, Ben J
Published in Proceedings of the National Academy of Sciences - PNAS (26.02.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (26.02.2008)
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Journal Article
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
Dekker, Nick, van Dussen, Laura, Hollak, Carla E.M., Overkleeft, Herman, Scheij, Saskia, Ghauharali, Karen, van Breemen, Mariëlle J., Ferraz, Maria J., Groener, Johanna E.M., Maas, Mario, Wijburg, Frits A., Speijer, Dave, Tylki-Szymanska, Anna, Mistry, Pramod K., Boot, Rolf G., Aerts, Johannes M.
Published in Blood (20.10.2011)
Published in Blood (20.10.2011)
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Journal Article
Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder
Wijburg, Frits A, Węgrzyn, Grzegorz, Burton, Barbara K, Tylki-Szymańska, Anna
Published in Acta Paediatrica (01.05.2013)
Published in Acta Paediatrica (01.05.2013)
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Journal Article
Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications
Kuiper, Gé-Ann, Meijer, Olga L M, Langereis, Eveline J, Wijburg, Frits A
Published in Orphanet journal of rare diseases (08.01.2018)
Published in Orphanet journal of rare diseases (08.01.2018)
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Journal Article
Treatment of lysosomal storage disorders: successes and challenges
Hollak, Carla E. M., Wijburg, Frits A.
Published in Journal of inherited metabolic disease (01.07.2014)
Published in Journal of inherited metabolic disease (01.07.2014)
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Journal Article
Conference Proceeding
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
Langereis, Eveline J, Wagemans, Tom, Kulik, Wim, Lefeber, Dirk J, van Lenthe, Henk, Oussoren, Esmee, van der Ploeg, Ans T, Ruijter, George J, Wevers, Ron A, Wijburg, Frits A, van Vlies, Naomi
Published in PloS one (25.09.2015)
Published in PloS one (25.09.2015)
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Journal Article
Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review
Müller, Annelieke R, Boot, Erik, Notermans, Stijn B, Schuengel, Carlo, Henneman, Lidewij, Cornel, Martina C, van Haelst, Mieke M, Alders, Mariëlle, van Karnebeek, Clara D M, Bijl, Bas, Wijburg, Frits A, van Eeghen, Agnies M
Published in Orphanet journal of rare diseases (16.09.2024)
Published in Orphanet journal of rare diseases (16.09.2024)
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Journal Article
Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach
Lanar, Sally, Parker, Samantha, O'Neill, Cara, Marrel, Alexia, Arnould, Benoit, Héron, Bénédicte, Muschol, Nicole, Wijburg, Frits A, Chakrapani, Anupam, Olivier, Sophie, Aiach, Karen
Published in Orphanet journal of rare diseases (22.02.2022)
Published in Orphanet journal of rare diseases (22.02.2022)
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Journal Article
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype
Nijmeijer, Stephanie C M, van den Born, L Ingeborg, Kievit, Anneke J A, Stepien, Karolina M, Langendonk, Janneke, Marchal, Jan Pieter, Roosing, Susanne, Wijburg, Frits A, Wagenmakers, Margreet A E M
Published in Orphanet journal of rare diseases (12.11.2019)
Published in Orphanet journal of rare diseases (12.11.2019)
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Journal Article
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
de Ru, Minke H, Boelens, Jaap J, Das, Anibh M, Jones, Simon A, van der Lee, Johanna H, Mahlaoui, Nizar, Mengel, Eugen, Offringa, Martin, O'Meara, Anne, Parini, Rossella, Rovelli, Attilio, Sykora, Karl-Walter, Valayannopoulos, Vassili, Vellodi, Ashok, Wynn, Robert F, Wijburg, Frits A
Published in Orphanet journal of rare diseases (10.08.2011)
Published in Orphanet journal of rare diseases (10.08.2011)
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Journal Article
Conference Proceeding
Impact of age at onset and newborn screening on outcome in organic acidurias
Heringer, Jana, Valayannopoulos, Vassili, Lund, Allan M., Wijburg, Frits A., Freisinger, Peter, Barić, Ivo, Baumgartner, Matthias R., Burgard, Peter, Burlina, Alberto B., Chapman, Kimberly A., i Saladelafont, Elisenda Cortès, Karall, Daniela, Mühlhausen, Chris, Riches, Victoria, Schiff, Manuel, Sykut-Cegielska, Jolanta, Walter, John H., Zeman, Jiri, Chabrol, Brigitte, Kölker, Stefan
Published in Journal of inherited metabolic disease (01.05.2016)
Published in Journal of inherited metabolic disease (01.05.2016)
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Journal Article
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates
Knottnerus, Suzan J G, Mengarelli, Isabella, Wüst, Rob C I, Baartscheer, Antonius, Bleeker, Jeannette C, Coronel, Ruben, Ferdinandusse, Sacha, Guan, Kaomei, IJlst, Lodewijk, Li, Wener, Luo, Xiaojing, Portero, Vincent M, Ulbricht, Ying, Visser, Gepke, Wanders, Ronald J A, Wijburg, Frits A, Verkerk, Arie O, Houtkooper, Riekelt H, Bezzina, Connie R
Published in International journal of molecular sciences (08.04.2020)
Published in International journal of molecular sciences (08.04.2020)
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Journal Article
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III
de Ruijter, Jessica, de Ru, Minke H., Wagemans, Tom, IJlst, Lodewijk, Lund, Allan M., Orchard, Paul J., Schaefer, G. Bradley, Wijburg, Frits A., van Vlies, Naomi
Published in Molecular genetics and metabolism (01.12.2012)
Published in Molecular genetics and metabolism (01.12.2012)
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