Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study

Autor: Meng Yuan, Eleni-Rosalina Andrinopoulou, Michelle E. Kruijshaar, Aglina Lika, Laurike Harlaar, Ans T. van der Ploeg, Dimitris Rizopoulos, Nadine A. M. E. van der Beek

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)

Abstract Background Pompe disease is a rare, progressive metabolic myopathy. The aim of this study is to investigate the associations of physical outcomes with patient-reported outcome measures (PROMs) in late-onset Pompe disease. Methods We included

Externí odkaz: https://doaj.org/article/1040b1b2445f463dbf66ccb9fe671ece

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease

Autor: Tim A. Kanters, Ans T. van der Ploeg, Michelle E. Kruijshaar, Dimitris Rizopoulos, W. Ken Redekop, Maureen P. M. H. Rutten-van Mӧlken, Leona Hakkaart-van Roijen

Publikováno v: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)

Abstract Background Pompe disease is a rare, progressive, metabolic disease, and the first treatable inheritable muscle disorder. Enzyme replacement therapy (ERT) with alglucosidase alfa is disease specific and the only medicinal product authorized f

Externí odkaz: https://doaj.org/article/9cfbaaa5b920451e8ecd10d255dadfc6

Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study

Autor: Ans T. van der Ploeg, Nadine A. M. E. van der Beek, Eleni-Rosalina Andrinopoulou, Aglina Lika, Michelle E. Kruijshaar, Meng Yuan, L. Harlaar, Dimitris Rizopoulos

Publikováno v: Orphanet Journal of Rare Diseases, 15(1):232. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Orphanet Journal of Rare Diseases

Background Pompe disease is a rare, progressive metabolic myopathy. The aim of this study is to investigate the associations of physical outcomes with patient-reported outcome measures (PROMs) in late-onset Pompe disease. Methods We included 121 Dutc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73e4f3606075d4e5a0d2cb8be2dc5878
https://doi.org/10.1186/s13023-020-01469-7

Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy

Autor: Dimitris Rizopoulos, Michelle E. Kruijshaar, Ans T. van der Ploeg, L. Harlaar, Nadine A. M. E. van der Beek, Jan C. van der Meijden

Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 41(6), 1205-1214. Springer Netherlands

Objectives Pompe disease is a progressive metabolic myopathy for which enzyme replacement therapy (ERT) was approved in 2006. While various publications have examined the effects of ERT in classic-infantile patients and in adults, little has been pub

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dea99d3f2276d8a8500fd77b617d9c5
http://europepmc.org/articles/PMC6326992

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy

Autor: Dimitris Rizopoulos, W.W.M. Pim Pijnappel, Merel Stok, Pieter A. van Doorn, Juna M. de Vries, Nadine A. M. E. van der Beek, Ans T. van der Ploeg, Esther Kuperus, Michelle E. Kruijshaar, Marianne Hoogeveen-Westerveld, Stephan C.A. Wens, Marian A. Kroos

Publikováno v: Genetics in Medicine, 19(1), 90-97. Lippincott Williams & Wilkins

To determine the effect of antibodies against recombinant human acid α-glucosidase (rhGAA) on treatment efficacy and safety, and to test whether the GAA genotype is involved in antibody formation. We used enzyme-linked immunosorbent assay (ELISA) to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::032eee2f79b71b1d4de69144214c809b
https://pure.eur.nl/en/publications/40b22d98-8906-4c75-9d87-c4e74547a6cd