Zobrazeno 1 - 10 of 73 pro vyhledávání: '"Michelle E. Kruijshaar"'
1
Akademický článek
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
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2
Akademický článek
Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients
Autor: Jan C. van der Meijden, Michelle E. Kruijshaar, Dimitris Rizopoulos, Pieter A. van Doorn, Nadine A. M. E. van der Beek, Ans T. van der Ploeg
Publikováno v: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Abstract Background Pompe disease is a rare metabolic myopathy. In adult patients, progressive weakness of limb-girdle and respiratory muscles often leads to wheelchair and respirator dependency. Clinical studies have shown enzyme replacement therapy
Externí odkaz: https://doaj.org/article/25ea3c0ba4a348f990be875bbacf2e18
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3
Akademický článek
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
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4
Akademický článek
Has the burden of depression been overestimated?
Autor: Michelle E. Kruijshaar, Nancy Hoeymans, Jan Spijker, Marlies E.A. Stouthard, Marie-Louise Essink-Bot
Publikováno v: Bulletin of the World Health Organization, Vol 83, Iss 6, Pp 443-448
OBJECTIVE: To investigate whether high estimates of the burden of depression could be attributed to an overestimation of disability weights (reflecting more severe disability). METHODS: We derived disability weights that were tailored to prevalence d
Externí odkaz: https://doaj.org/article/d3a374cc54e54ef989ae5d3fc7bdd4c0
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5
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late-onset Pompe disease
Autor: Aglina Lika, Eleni‐Rosalina Andrinopoulou, Nadine A. M. E. van der Beek, Dimitris Rizopoulos, Ans T. van der Ploeg, Michelle E. Kruijshaar
Publikováno v: Journal of Inherited Metabolic Disease. Springer Netherlands
Pompe disease is a rare, progressive, and metabolic myopathy. Reduced pulmonary function is one of the main problems seen in adult patients with late-onset Pompe disease (LOPD). We aimed to explore the association between changes over time in pulmona
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25f1e3eeda806a18aae270df53751bea
https://pure.eur.nl/en/publications/1c16fac0-44ed-4c74-903c-d5cd2816e920
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6
Akademický článek
The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.
Autor: Esther Kuperus, Jan C van der Meijden, Stijn L M In 't Groen, Marian A Kroos, Marianne Hoogeveen-Westerveld, Dimitris Rizopoulos, Monica Yasmin Nino Martinez, Michelle E Kruijshaar, Pieter A van Doorn, Nadine A M E van der Beek, Ans T van der Ploeg, W W M Pim Pijnappel
Publikováno v: PLoS ONE, Vol 13, Iss 12, p e0208854 (2018)
The majority of children and adults with Pompe disease in the population of European descent carry the leaky splicing GAA variant c.-32-13T>G (IVS1) in combination with a fully deleterious GAA variant on the second allele. The phenotypic spectrum of
Externí odkaz: https://doaj.org/article/16edc4285a074ac2a8cd57cda3d8cf22
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7
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland
Autor: Anne Tscherter, Christina T. Rüsch, Dominique Baumann, Cornelia Enzmann, Oswald Hasselmann, David Jacquier, Hans H. Jung, Michelle E. Kruijshaar, Claudia E. Kuehni, Christoph Neuwirth, Georg M. Stettner, Andrea Klein, Nadine Lötscher, Gian P. Ramelli, Paolo Ripellino, Oliver Scheidegger, David-Alexander Wille
Publikováno v: Tscherter, Anne; Rüsch, Christina T; Baumann, Dominique; Enzmann, Cornelia; Hasselmann, Oswald; Jacquier, David; Jung, Hans H; Kruijshaar, Michelle E; Kuehni, Claudia E; Neuwirth, Christoph; Stettner, Georg M; Klein, Andrea (2022). Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland. Neuromuscular disorders, 32(5), pp. 399-409. Elsevier 10.1016/j.nmd.2022.02.001
Neuromuscular Disorders, 32(5), 399-409. Elsevier Ltd.
Spinal muscular atrophy (SMA) is an autosomal recessive disorder causing progressive proximal muscular, respiratory, and bulbar weakness. We present outcome data on motor function, ventilation, nutrition, and language development of SMA patients trea
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::471abdfcbdd228784da0f561145baffa
https://doi.org/10.5167/uzh-223821
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8
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
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10
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
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