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

Autor: Gé-Ann Kuiper, Olga L. M. Meijer, Eveline J. Langereis, Frits A. Wijburg

Publikováno v: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-13 (2018)

Abstract Background Rare diseases are often un- or misdiagnosed for extended periods, resulting in a long diagnostic delay that may significantly add to the burden of the disease. An early diagnosis is particularly essential if a disease-modifying tr

Externí odkaz: https://doaj.org/article/ebaf4916cd344ccea5f26806653b9f09

Limited data to evaluate real‐world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I

Autor: Gé-Ann Kuiper, Carla E. M. Hollak, Annet M. Bosch, Stephanie C. M. Nijmeijer, Manouck J. M. Roelofs, Johanneke H. van der Lee

Publikováno v: Journal of Inherited Metabolic Disease. 42:762-775

Orphan medicinal products (OMPs) are often authorized based on pivotal phase II and III trials that do not always meet high quality criteria. Laronidase is an example of an OMP used for treatment of mucopolysaccharidosis I (MPS I). One randomized con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3af185d7df9bde645675c03a0d261662
https://doi.org/10.1002/jimd.12103

Clostridium difficile infections in young infants

Autor: Wim Ang, Sophie van der Schoor, Gé-Ann Kuiper, Joffrey van Prehn, Tim G. J. de Meij, Frank Kneepkens

Publikováno v: IDCases
IDCases, 10, 7-11. Elsevier Ltd
Kuiper, G A, van Prehn, J, Ang, W, Kneepkens, F, van der Schoor, S & de Meij, T 2017, ' Clostridium difficile infections in young infants : Case presentations and literature review ', IDCases, vol. 10, pp. 7-11 . https://doi.org/10.1016/j.idcr.2017.07.005

It has been assumed that symptomatic Clostridium difficile infections do not occur in young infants, as this specific group would lack specific C. difficile toxin receptors. As a consequence, it is often current practice not to test for C. difficile

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15b588be6e3fbaef6e69db896fba2d54
https://doi.org/10.1016/j.idcr.2017.07.005

Thoracolumbar kyphosis in MPS I: A natural history study and an international consensus procedure for the development of a clinical practice guideline

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

Publikováno v: Molecular Genetics and Metabolism. 126:S88-S89

Dysostosis multiplex is a progressive skeletal disease in patients with mucopolysaccharidosis type I (MPS I). One of its key features is thoracolumbar kyphosis and no guideline for surgical treatment is available yet. Therefore, we investigated the n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::803effa1ca01246c3665931394dd050d
https://doi.org/10.1016/j.ymgme.2018.12.219

Incomplete biomarker response in mucopolysaccharidosis type I after successful hematopoietic cell transplantation

Autor: Frits A. Wijburg, Jaap Jan Boelens, Eveline J. Langereis, Gé-Ann Kuiper, Peter M. van Hasselt

Publikováno v: Molecular Genetics and Metabolism, 122(1-2), 86–91. Academic Press Inc.
Molecular genetics and metabolism, 122(1-2), 86-91. Academic Press Inc.

Background: Residual disease, primarily involving musculoskeletal tissue, is a common problem in patients with neuronopathic mucopolysaccharidosis type I (MPS I, Hurler or severe Hurler-Scheie phenotype) after a successful hematopoietic cell transpla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d8ced3776a8051800bd7db86a1a9180
https://pubmed.ncbi.nlm.nih.gov/28684085