Zobrazeno 1 - 10
of 71
pro vyhledávání: '"M A VAN, den Hout"'
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study
Autor:
Imke A. M. Ditters, Nadine A. M. E. van der Beek, Esther Brusse, Ans T. van der Ploeg, Johanna M. P. van den Hout, Hidde H. Huidekoper
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Pompe disease is a lysosomal storage disease treated with life-long enzyme replacement therapy (ERT). Home-based ERT has been provided in the Netherlands since 2008 because it diminishes the burden of treatment, increases patient
Externí odkaz:
https://doaj.org/article/b38054f598804cc0b61cfb2424019d8a
Autor:
G. Ismailova, M. J. Mackenbach, J. M. P. van den Hout, A. T. van der Ploeg, E. Brusse, M. A. E. M. Wagenmakers
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)
Abstract Introduction Patients with Glycogen Storage Disease type II (GSDII), an inheritable metabolic myopathy also known as Pompe disease, are considered to be at risk for severe COVID-19 due to a reduced respiratory function and a tendency to be o
Externí odkaz:
https://doaj.org/article/94c2d99ae37a49daa8f9cd77e9bb8302
Autor:
Harmke A. van Kooten, Imke A. M. Ditters, Marianne Hoogeveen-Westerveld, Edwin H. Jacobs, Johanna M. P. van den Hout, Pieter A. van Doorn, W. W. M. Pim Pijnappel, Ans T. van der Ploeg, Nadine A. M. E. van der Beek
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Enzyme replacement therapy (ERT) with recombinant human alpha-glucosidase (rhGAA, alglucosidase alfa) has improved survival, motor outcomes, daily life activity and quality of life in Pompe patients. However, ERT in Pompe disease
Externí odkaz:
https://doaj.org/article/cdbdc84961404c50b4089ea2e7a833db
Autor:
Abigail Veldman, M. B. Gea Kiewiet, Dineke Westra, Annet M. Bosch, Marion M. G. Brands, René I. F. M. de Coo, Terry G. J. Derks, Sabine A. Fuchs, Johanna. M. P. van den Hout, Hidde H. Huidekoper, Leo A. J. Kluijtmans, Klaas Koop, Charlotte M. A. Lubout, Margaretha F. Mulder, Bianca Panis, M. Estela Rubio-Gozalbo, Monique G. de Sain-van der Velden, Jaqueline Schaefers, Andrea B. Schreuder, Gepke Visser, Ron A. Wevers, Frits A. Wijburg, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 4, p 56 (2023)
The Wilson and Jungner (W&J) and Andermann criteria are meant to help select diseases eligible for population-based screening. With the introduction of next-generation sequencing (NGS) methods for newborn screening (NBS), more inherited metabolic dis
Externí odkaz:
https://doaj.org/article/3d50f4a1bda74e6c8dfdc49c9d39ba02
Autor:
Imke A. M. Ditters, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Ans T. van der Ploeg, Hidde H. Huidekoper, Johanna M. P. van den Hout
Publikováno v:
Biomolecules, Vol 13, Iss 9, p 1414 (2023)
Background: Pompe disease is a lysosomal storage disease characterised by skeletal and respiratory muscle weakness. Since 2006, enzyme replacement therapy (ERT) with alglucosidase alfa has been available. ERT significantly improves the prognosis of p
Externí odkaz:
https://doaj.org/article/0d4897632d264670b67bc1deca48ce31
Autor:
J. Schaefers, L. J. van der Giessen, C. Klees, E. H. Jacobs, S. Sieverdink, M. H. G. Dremmen, J. K. H. Spoor, A. T. van der Ploeg, J. M. P. van den Hout, H. H. Huidekoper
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare rapidly progressive neurodegenerative disorder, resulting in early death. Intracerebroventricular enzyme replacement therapy (ERT) with cerliponase alfa is now availab
Externí odkaz:
https://doaj.org/article/8c57c49f00064c658440a8768520074c
Autor:
J. J. A. van den Dorpel, E. Poelman, L. Harlaar, H. A. van Kooten, L. J. van der Giessen, P. A. van Doorn, A. T. van der Ploeg, J. M. P. van den Hout, N. A. M. E. van der Beek
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Enzyme replacement therapy (ERT; alglucosidase alfa) has improved the prospects for patients with classic infantile Pompe disease considerably. However, over time we noticed that many of these children exhibit distal muscle weakne
Externí odkaz:
https://doaj.org/article/271819d21b264ee4ac3cfc5060e9e962
Autor:
E. Poelman, M. Hoogeveen-Westerveld, J. M. P. van den Hout, R. G. M. Bredius, A. C. Lankester, G. J. A. Driessen, S. S. M. Kamphuis, W. W. M. Pijnappel, A. T. van der Ploeg
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Purpose To evaluate whether immunomodulation can eliminate high sustained antibody levels, and thereby improve clinical outcome in classic infantile Pompe patients receiving enzyme replacement therapy (ERT) with recombinant human alpha-gluco
Externí odkaz:
https://doaj.org/article/5d08294a08ec4d49bfdeb998c62167fc
Autor:
Jan J. A. van den Dorpel, Marjolein H. G. Dremmen, Nadine A. M. E. van der Beek, Dimitris Rizopoulos, Pieter A. van Doorn, Ans T. van der Ploeg, Ryan L. Muetzel, Johanna M. P. van den Hout
Publikováno v:
Journal of Neurology, 270(3), 1662-1671. D. Steinkopff-Verlag
Enzyme replacement therapy has drastically changed prospects of patients with Pompe disease, a progressive metabolic myopathy. As classic infantile patients survive due to treatment, they exhibit progressive white matter abnormalities, while brain in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f41902910f3bfccf6b4f7658ce0b3d6b
https://doi.org/10.1007/s00415-022-11506-z
https://doi.org/10.1007/s00415-022-11506-z
Autor:
Marne C. Hagemeijer, Jeroen C. van den Bosch, Michiel Bongaerts, Edwin H. Jacobs, Johanna M. P. van den Hout, Esmee Oussoren, George J. G. Ruijter
Publikováno v:
Journal of Inherited Metabolic Disease, 46(2), 206-219. Springer Netherlands
Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan-side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosacchari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0b9c70f5f7449b302e79db2c2a9ae45
https://pure.eur.nl/en/publications/2c037acc-9f86-40d9-adfb-4a386ea040a6
https://pure.eur.nl/en/publications/2c037acc-9f86-40d9-adfb-4a386ea040a6
