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

por Morrison, Alexandra, Oussoren, Esmee, Friedel, Tabea, Cruz, Jordi, Yilmaz, Nalan
Publicado 2019

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

por Ernst, Martijn P.T., Broeders, Mike, Herrero-Hernandez, Pablo, Oussoren, Esmee, van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publicado 2020

Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI

por Brands, Marion M. M. G., Frohn-Mulder, Ingrid M., Hagemans, Marloes L. C., Hop, Wim C. J., Oussoren, Esmee, Helbing, Wim A., van der Ploeg, Ans T.
Publicado 2012

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

por Broeders, Mike, Smits, Kasper, Goynuk, Busra, Oussoren, Esmee, van den Hout, Hannerieke J.M.P., Bergsma, Atze J., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publicado 2020

Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review

por de Bode, Chiel J., Dogterom, Emma J., Rozeboom, Antoinette V. J., Langendonk, Janneke J., Wolvius, Eppo B., van der Ploeg, Ans T., Oussoren, Esmée, Wagenmakers, Margreet A. E. M.
Publicado 2022

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

por 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
Publicado 2015

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

por Bongaerts, Michiel, Bonte, Ramon, Demirdas, Serwet, Jacobs, Edwin H., Oussoren, Esmee, van der Ploeg, Ans T., Wagenmakers, Margreet A. E. M., Hofstra, Robert M. W., Blom, Henk J., Reinders, Marcel J. T., Ruijter, George J. G.
Publicado 2020

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

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

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

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

Mucolipidosis type III, a series of adult patients

por Oussoren, Esmee, van Eerd, David, Murphy, Elaine, Lachmann, Robin, van der Meijden, Jan C., Hoefsloot, Lies H., Verdijk, Rob, Ruijter, George J. G., Maas, Mario, Hollak, Carla E. M., Langendonk, Janneke G., van der Ploeg, Ans T., Langeveld, Mirjam
Publicado 2018

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

por Hagemeijer, Marne C., Oussoren, Esmee, Ruijter, George J. G., Onkenhout, Willem, Huidekoper, Hidde H., Ebberink, Merel S., Waterham, Hans R., Ferdinandusse, Sacha, de Vries, Maaike C., Huigen, Marleen C. D. G., Kluijtmans, Leo A. J., Coene, Karlien L. M., Blom, Henk J
Publicado 2021

Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure

por Oussoren, Esmee, Mathijssen, Irene M. J., Wagenmakers, Margreet, Verdijk, Rob M., Bredero-Boelhouwer, Hansje H., van Veelen-Vincent, Marie-Lise C., van der Meijden, Jan C., van den Hout, Johanna M. P., Ruijter, George J. G., van der Ploeg, Ans T., Langeveld, Mirjam
Publicado 2018