Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study

by Thirsa Conijn, Lotte Haverman, Frits A. Wijburg, Carlijn De Roos
Published 2021-03-01

Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications

by Gé-Ann Kuiper, Olga L. M. Meijer, Eveline J. Langereis, Frits A. Wijburg
Published 2018-01-01

Inheritance pattern of familial hypercholesterolemia and markers of cardiovascular risk

by D. Meeike Kusters, Hans J. Avis, Marjet J. Braamskamp, Roeland Huijgen, Frits A. Wijburg, John J. Kastelein, Albert Wiegman, Barbara A. Hutten
Published 2013-09-01

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

by Amir Jahic, Sven Günther, Nicole Muschol, Barbro Fossøy Stadheim, Øivind Braaten, Hanne Kjensli Hyldebrandt, Gé‐Ann Kuiper, Karen Tylee, Frits A. Wijburg, Christian Beetz
Published 2019-09-01

RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE

by James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Merce Pineda, Frederic Sedel, Meral Topcu, Marie T. Vanier, Hakan Widner, Frits A. Wijburg, Marc C. Pattersonm
Published 2010-02-01

RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE

by James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Merce Pineda, Frederic Sedel, Meral Topcu, Marie T. Vanier, Hakan Widner, Frits A. Wijburg, Marc C. Pattersonm
Published 2010-02-01

The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype

by Stephanie C. M. Nijmeijer, L. Ingeborg van den Born, Anneke J. A. Kievit, Karolina M. Stepien, Janneke Langendonk, Jan Pieter Marchal, Susanne Roosing, Frits A. Wijburg, Margreet A. E. M. Wagenmakers
Published 2019-11-01

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.

by Eveline J Langereis, Tom Wagemans, Wim Kulik, Dirk J Lefeber, Henk van Lenthe, Esmee Oussoren, Ans T van der Ploeg, George J Ruijter, Ron A Wevers, Frits A Wijburg, Naomi van Vlies
Published 2015-01-01

Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.

by Saskia M Rombach, Johannes M F G Aerts, Ben J H M Poorthuis, Johanna E M Groener, Wilma Donker-Koopman, Erik Hendriks, Mina Mirzaian, Sijmen Kuiper, Frits A Wijburg, Carla E M Hollak, Gabor E Linthorst
Published 2012-01-01

Neonatal carnitine concentrations in relation to gestational age and weight

by Loek L. Crefcoeur, Monique G. M. deSain‐van der Velden, Sacha Ferdinandusse, Mirjam Langeveld, Rose Maase, Frédéric M. Vaz, Gepke Visser, Ronald J.A. Wanders, Frits A. Wijburg, Rendelien K. Verschoof‐Puite, Peter C. J. I. Schielen
Published 2020-11-01

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

by Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, Lorne A Clarke, Gabriela Dostalova, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Forcelini, Kristina An Haack, Robert J Hopkin, Michael Mauer, Behzad Najafian, C Ronald Scott, Suma P Shankar, Beth L Thurberg, Camilla Tøndel, Anna Tylki-Szymańska, Uma Ramaswami
Published 2015-01-01

Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation

by Arie O. Verkerk, Arie O. Verkerk, Suzan J. G. Knottnerus, Suzan J. G. Knottnerus, Vincent Portero, Jeannette C. Bleeker, Jeannette C. Bleeker, Sacha Ferdinandusse, Kaomei Guan, Lodewijk IJlst, Gepke Visser, Gepke Visser, Ronald J. A. Wanders, Frits A. Wijburg, Connie R. Bezzina, Isabella Mengarelli, Riekelt H. Houtkooper
Published 2021-01-01

Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates

by Suzan J. G. Knottnerus, Isabella Mengarelli, Rob C. I. Wüst, Antonius Baartscheer, Jeannette C. Bleeker, Ruben Coronel, Sacha Ferdinandusse, Kaomei Guan, Lodewijk IJlst, Wener Li, Xiaojing Luo, Vincent M. Portero, Ying Ulbricht, Gepke Visser, Ronald J. A. Wanders, Frits A. Wijburg, Arie O. Verkerk, Riekelt H. Houtkooper, Connie R. Bezzina
Published 2020-04-01

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure

by Gé-Ann Kuiper, Eveline J. Langereis, Sandra Breyer, Marco Carbone, René M. Castelein, Deborah M. Eastwood, Christophe Garin, Nathalie Guffon, Peter M. van Hasselt, Pauline Hensman, Simon A. Jones, Vladimir Kenis, Moyo Kruyt, Johanna H. van der Lee, William G. Mackenzie, Paul J. Orchard, Neil Oxborrow, Rossella Parini, Amy Robinson, Elke Schubert Hjalmarsson, Klane K. White, Frits A. Wijburg
Published 2019-01-01

Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

by Rinse W. Barendsen, Rinse W. Barendsen, Inge M. E. Dijkstra, Wouter F. Visser, Mariëlle Alders, Jet Bliek, Anita Boelen, Marelle J. Bouva, Saskia N. van der Crabben, Ellen Elsinghorst, Ankie G. M. van Gorp, Annemieke C. Heijboer, Annemieke C. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, Henk van Lenthe, Ingrid Metgod, Ingrid Metgod, Christiaan F. Mooij, Elise H. C. van der Sluijs, A. S. Paul van Trotsenburg, Rendelien K. Verschoof-Puite, Frédéric M. Vaz, Hans R. Waterham, Frits A. Wijburg, Marc Engelen, Eugènie Dekkers, Stephan Kemp, Stephan Kemp
Published 2021-01-01

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

by Rinse W. Barendsen, Rinse W. Barendsen, Inge M. E. Dijkstra, Wouter F. Visser, Mariëlle Alders, Jet Bliek, Anita Boelen, Marelle J. Bouva, Saskia N. van der Crabben, Ellen Elsinghorst, Ankie G. M. van Gorp, Annemieke C. Heijboer, Annemieke C. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, Henk van Lenthe, Ingrid Metgod, Ingrid Metgod, Christiaan F. Mooij, Elise H. C. van der Sluijs, A. S. Paul van Trotsenburg, Rendelien K. Verschoof-Puite, Frédéric M. Vaz, Hans R. Waterham, Frits A. Wijburg, Marc Engelen, Eugènie Dekkers, Stephan Kemp, Stephan Kemp
Published 2020-06-01