menu
  1. Home
  2. Lysosomal storage disorders

Expert on lysosomal storage disorders 

Lysosomal storage disorders are complex disorders that require specific expertise. The Center for Lysosomal and Metabolic Diseases has this expertise and is therefore recognized by the Ministry of Health, Welfare and Sports as a national expert center for lysosomal storage disorders. 

We have years of experience in diagnosing and treating patients with a lysosomal storage disorder and our center is engaged in high-level scientific research on the course of the different disorders and on the development of new innovative treatments.

Disorders

On top of our expertise on lysosomal storage disorders in general, we have been recognized by the Ministry of Health, Welfare and Sport for a number of specific lysosomal storage disorders. Please click on the link below, to learn more about the different disorders we treat at our center. 

More information

Publications

Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry.

Berger KI, Chien YH, Dubrovsky A, Kishnani PS, Llerena JC, Neilan E, Roberts M, Sheng B, Batista JL, Periquet M, Wilson KM, van der Ploeg AT

Journal of neurology, 2024 Jun 19

doi: 10.1007/s00415-024-12489-9

Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.

Schoser B, van der Beek NAME, Broomfield A, Brusse E, Diaz-Manera J, Hahn A, Hundsberger T, Kornblum C, Kruijshaar M, Laforet P, Mengel E, Mongini T, Orlikowski D, Parenti G, Pijnappel WWMP, Roberts M, Scherer T, Toscano A, Vissing J, van den Hout JMP, van Doorn PA, Wenninger S, van der Ploeg AT

European journal of neurology, 2024 Jun 14

doi: 10.1111/ene.16383

Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.

Giugliani R, Gonzalez-Meneses A, Scarpa M, Burton B, Wang R, Martins E, Oussoren E, Hennermann JB, Chabrol B, Grant CL, Sun A, Durand C, Hetzer J, Malkus B, Marsden D, Merritt Ii JL

Orphanet journal of rare diseases, 2024 May 07

doi: 10.1186/s13023-024-03176-z

More information