Zobrazeno 1 - 10
of 834
pro vyhledávání: '"van der Ploeg Ans"'
Autor:
Scheffers, Linda E., Dulfer, Karolijn, Lanser, Charlotte, Mackenbach, Maarten, van der Ploeg, Ans T., van den Hout, Johanna M.P., van den Berg, Linda E.
Publikováno v:
In The Journal of Pediatrics: Clinical Practice December 2024 14
Autor:
Liang, Qiushi, Vlaar, Eva C., Pijnenburg, Joon M., Rijkers, Erikjan, Demmers, Jeroen A.A., Vulto, Arnold G., van der Ploeg, Ans T., van Til, Niek P., Pijnappel, W.W.M. Pim
Publikováno v:
In Journal of Proteomics 16 January 2024 291
Autor:
Catalano, Fabio, Vlaar, Eva C., Katsavelis, Drosos, Dammou, Zina, Huizer, Tessa F., van den Bosch, Jeroen C., Hoogeveen-Westerveld, Marianne, van den Hout, Hannerieke J.M.P., Oussoren, Esmeralda, Ruijter, George J.G., Schaaf, Gerben, Pike-Overzet, Karin, Staal, Frank J.T., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publikováno v:
In Molecular Therapy - Methods & Clinical Development 14 December 2023 31
Autor:
van der Beek Nadine AME, de Vries Juna M, Hagemans Marloes LC, Hop Wim CJ, Kroos Marian A, Wokke John HJ, de Visser Marianne, van Engelen Baziel GM, Kuks Jan BM, van der Kooi Anneke J, Notermans Nicolette C, Faber Karin G, Verschuuren Jan JGM, Reuser Arnold JJ, van der Ploeg Ans T, van Doorn Pieter A
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 88 (2012)
Abstract Background Due partly to physicians’ unawareness, many adults with Pompe disease are diagnosed with great delay. Besides, it is not well known which factors influence the rate of disease progression, and thus disease outcome. We delineated
Externí odkaz:
https://doaj.org/article/747ab8bab1aa43e5bd4327216cf24086
Akademický článek
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Autor:
de Vries Juna M, van der Beek Nadine AME, Hop Wim CJ, Karstens Francois PJ, Wokke John H, de Visser Marianne, van Engelen Baziel GM, Kuks Jan BM, van der Kooi Anneke J, Notermans Nicolette C, Faber Catharina G, Verschuuren Jan JGM, Kruijshaar Michelle E, Reuser Arnold JJ, van Doorn Pieter A, van der Ploeg Ans T
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 73 (2012)
Abstract Background Enzyme replacement therapy (ERT) in adults with Pompe disease, a progressive neuromuscular disorder, is of promising but variable efficacy. We investigated whether it alters the course of disease, and also identified potential pro
Externí odkaz:
https://doaj.org/article/dad38a7f47074d7da74574e416549221
Autor:
Weinreich Stephanie, Rigter Tessel, van El Carla, Dondorp Wybo, Kostense Pieter, van der Ploeg Ans T, Reuser Arnold JJ, Cornel Martina, Hagemans Marloes
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 15 (2012)
Abstract Background Neonatal screening for Pompe disease has been introduced in Taiwan and a few U.S. states, while other jurisdictions including some European countries are piloting or considering this screening. First-tier screening flags both clas
Externí odkaz:
https://doaj.org/article/30ddceeea42742cf91564d3918c48f3a
Autor:
Scarpa Maurizio, Almássy Zsuzsanna, Beck Michael, Bodamer Olaf, Bruce Iain A, De Meirleir Linda, Guffon Nathalie, Guillén-Navarro Encarna, Hensman Pauline, Jones Simon, Kamin Wolfgang, Kampmann Christoph, Lampe Christina, Lavery Christine A, Leão Teles Elisa, Link Bianca, Lund Allan M, Malm Gunilla, Pitz Susanne, Rothera Michael, Stewart Catherine, Tylki-Szymańska Anna, van der Ploeg Ans, Walker Robert, Zeman Jiri, Wraith James E
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 72 (2011)
Abstract Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological change
Externí odkaz:
https://doaj.org/article/d63f77a4e8594226848dbc59023465a9
Autor:
Reuser Arnold JJ, Hop Wim CJ, de Vries Juna M, Güngör Deniz, van Doorn Pieter A, van der Ploeg Ans T, Hagemans Marloes LC
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 34 (2011)
Abstract Background Pompe disease is a rare lysosomal storage disorder characterized by muscle weakness and wasting. The majority of adult patients have slowly progressive disease, which gradually impairs mobility and respiratory function and may lea
Externí odkaz:
https://doaj.org/article/3e3d488027e148c1bf7c95345d25b688
Akademický článek
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