Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII – a European caregiver survey

by Alexandra Morrison, Esmee Oussoren, Tabea Friedel, Jordi Cruz, Nalan Yilmaz
Published 2019-11-01

Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease

by Martijn P.T. Ernst, Mike Broeders, Pablo Herrero-Hernandez, Esmee Oussoren, Ans T. van der Ploeg, W.W.M. Pim Pijnappel
Published 2020-09-01

A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI

by Mike Broeders, Kasper Smits, Busra Goynuk, Esmee Oussoren, Hannerieke J.M.P. van den Hout, Atze J. Bergsma, Ans T. van der Ploeg, W.W.M. Pim Pijnappel
Published 2020-12-01

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

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism

by Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Edwin H. Jacobs, Esmee Oussoren, Ans T. van der Ploeg, Margreet A. E. M. Wagenmakers, Robert M. W. Hofstra, Henk J. Blom, Marcel J. T. Reinders, George J. G. Ruijter
Published 2021-12-01

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

by Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen, Annet M. Bosch
Published 2020-02-01

Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

by Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen, Annet M. Bosch
Published 2020-09-01

Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

by Marne C. Hagemeijer, Esmee Oussoren, George J. G. Ruijter, Willem Onkenhout, Hidde H. Huidekoper, Merel S. Ebberink, Hans R. Waterham, Sacha Ferdinandusse, Maaike C. deVries, Marleen C. D. G. Huigen, Leo A. J. Kluijtmans, Karlien L. M. Coene, Henk J Blom
Published 2021-09-01