Isolated neurological presentations of mevalonate kinase deficiency by Eva M. M. Hoytema van Konijnenburg, Esmeralda Oussoren, Joost Frenkel, Peter M. van Hasselt

Get full text

Bilateral posterior lamellar corneal transplant surgery in an infant of 17 weeks old: Surgical challenges and the added value of intraoperative optical coherence tomography by Marc B. Muijzer, Hester Y. Kroes, Peter M. vanHasselt, Robert P. L. Wisse

Get full text

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio by H.A. Haijes, Hubertus C.M.T. Prinsen, Monique G.M. de Sain-van der Velden, Nanda M. Verhoeven-Duif, Peter M. van Hasselt, Judith J.M. Jans

Get full text

Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series by Mojca Zerjav Tansek, Jana Kodric, Simona Klemencic, Jaap Jan Boelens, Peter M. van Hasselt, Ana Drole Torkar, Maja Doric, Alenka Koren, Simona Avcin, Tadej Battelino, Urh Groselj

Get full text

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course by Willemijn F. E. Kuper, Claudia vanAlfen, Linda vanEck, Stella A. deMan, Marjolein H. Willemsen, Koen L. I. vanGassen, Monique Losekoot, Peter M. vanHasselt

Get full text

Vitamin B6 in plasma and cerebrospinal fluid of children. by Monique Albersen, Marjolein Bosma, Judith J M Jans, Floris C Hofstede, Peter M van Hasselt, Monique G M de Sain-van der Velden, Gepke Visser, Nanda M Verhoeven-Duif

Get full text

Aberrant cyclin C nuclear release induces mitochondrial fragmentation and dysfunction in MED13L syndrome fibroblasts by Kai-Ti Chang, Jan Jezek, Alicia N. Campbell, David C. Stieg, Zachary A. Kiss, Kevin Kemper, Ping Jiang, Hyung-Ok Lee, Warren D. Kruger, Peter M. van Hasselt, Randy Strich

Get full text

Internalization and Transport of PEGylated Lipid-Based Mixed Micelles across Caco-2 Cells Mediated by Scavenger Receptor B1 by Xiangjie Su, Mercedes Ramírez-Escudero, Feilong Sun, Joep B. van den Dikkenberg, Mies J. van Steenbergen, Roland J. Pieters, Bert J. C. Janssen, Peter M. van Hasselt, Wim E. Hennink, Cornelus F. van Nostrum

Get full text

Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm by Hanneke A. Haijes, Maria van der Ham, Hubertus C.M.T. Prinsen, Melissa H. Broeks, Peter M. van Hasselt, Monique G.M. de Sain-van der Velden, Nanda M. Verhoeven-Duif, Judith J.M. Jans

Get full text

A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy by Lynne Rumping, Petra J. W. Pouwels, Nicole I. Wolf, Holger Rehmann, Mirjam M. C. Wamelink, Quinten Waisfisz, Judith J. M. Jans, Hubertus C. M. T. Prinsen, Jiddeke M. van deKamp, Peter M. vanHasselt

Get full text

Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity by Willemijn F. E. Kuper, Marlies Oostendorp, Brigitte T. A. van den Broek, Karin van Veghel, Lourens J. P. Nonkes, Edward E. S. Nieuwenhuis, Sabine A. Fuchs, Tineke Veenendaal, Judith Klumperman, Albert Huisman, Stefan Nierkens, Peter M. van Hasselt

Get full text

Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy by Murtadha Al‐Saady, Shanice Beerepoot, Bonnie C. Plug, Marjolein Breur, Hristina Galabova, Petra J. W. Pouwels, Jaap‐Jan Boelens, Caroline Lindemans, Peter M. vanHasselt, Ulrich Matzner, Adeline Vanderver, Marianna Bugiani, Marjo S. van derKnaap, Nicole I. Wolf

Get full text

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients’ Dried Blood Spots and Plasma by Hanneke A. Haijes, Marcel Willemsen, Maria Van der Ham, Johan Gerrits, Mia L. Pras-Raves, Hubertus C. M. T. Prinsen, Peter M. Van Hasselt, Monique G. M. De Sain-van der Velden, Nanda M. Verhoeven-Duif, Judith J. M. Jans

Get full text

Prime editing for functional repair in patient-derived disease models by Imre F. Schene, Indi P. Joore, Rurika Oka, Michal Mokry, Anke H. M. van Vugt, Ruben van Boxtel, Hubert P. J. van der Doef, Luc J. W. van der Laan, Monique M. A. Verstegen, Peter M. van Hasselt, Edward E. S. Nieuwenhuis, Sabine A. Fuchs

Get full text

Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction by Nicole I. Wolf, Marjolein Breur, Bonnie Plug, Shanice Beerepoot, Aimee S. R. Westerveld, Diane F. vanRappard, Sharon I. deVries, Maarten H. P. Kole, Adeline Vanderver, Marjo S. van derKnaap, Caroline A. Lindemans, Peter M. vanHasselt, Jaap J. Boelens, Ulrich Matzner, Volkmar Gieselmann, Marianna Bugiani

Get full text

Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics by Marten H. P. M. Kerkhofs, Hanneke A. Haijes, A. Marcel Willemsen, Koen L. I. van Gassen, Maria van der Ham, Johan Gerrits, Monique G. M. de Sain-van der Velden, Hubertus C. M. T. Prinsen, Hanneke W. M. van Deutekom, Peter M. van Hasselt, Nanda M. Verhoeven-Duif, Judith J. M. Jans

Get full text

Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy init... by Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley, Jaap-Jan Boelens, Francesca Fumagalli, Wim G. Goettsch, Sabine Grønborg, Samuel Groeschel, Peter M. van Hasselt, Carla E. M. Hollak, Caroline Lindemans, Fanny Mochel, Peter G. M. Mol, Caroline Sevin, Ayelet Zerem, Ludger Schöls, Nicole I. Wolf

Get full text

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

Get full text

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients by Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M. van Hasselt, Paul Gissen, Philippe J. Goyens, Patrick J. McKiernan, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Stephan C. J. Huijbregts, Francjan J. van Spronsen

Get full text