Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Joep H. J. Kamphoven"'
Autor:
Ans T. van der Ploeg, Lies Anne Severijnen, Pieter A. van Doorn, Hannerieke J.M.P. van den Hout, Joep H. J. Kamphoven, Leon P. F. Winkel, Arnold J. J. Reuser
Publikováno v:
Muscle & Nerve, 27, 743-751. John Wiley & Sons Inc.
Pompe's disease (glycogen storage disease type II) is an autosomal recessive myopathy caused by lysosomal alpha-glucosidase deficiency. Enzyme replacement therapy (ERT) is currently under development for this disease. We evaluated the morphological c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fa2d62da980c6ed0004a8bdbc4399e8
https://doi.org/10.1002/mus.10381
https://doi.org/10.1002/mus.10381
Autor:
René Stubenitsky, Arnold J. J. Reuser, Pieter D. Verdouw, Ans T. van der Ploeg, Dirk J. Duncker, Joep H. J. Kamphoven
Publikováno v:
Physiological Genomics. 5:171-179
Pompe’s disease is an autosomal recessive and often fatal condition, caused by mutations in the acid α-glucosidase gene, leading to lysosomal glycogen storage in heart and skeletal muscle. We investigated the cardiac phenotype of an acid α-glucos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3965bf232ba8c5aecb85229073a5f466
https://doi.org/10.1152/physiolgenomics.2001.5.4.171
https://doi.org/10.1152/physiolgenomics.2001.5.4.171
Autor:
Ans T. van der Ploeg, Joep H. J. Kamphoven, Martijn M. De Ruiter, Leon P. F. Winkel, Hans L Hoeve, Arnold J. J. Reuser, Chris I. De Zeeuw, Bert G.A. van Zanten, J. Bijman, Hannerieke M.P. van den Hout
Publikováno v:
Neurobiology of Disease, 16, 14-20. Academic Press
Neurobiology of Disease, Vol 16, Iss 1, Pp 14-20 (2004)
Neurobiology of Disease, Vol 16, Iss 1, Pp 14-20 (2004)
Hearing deficit occurs in several lysosomal storage disorders but has so far not been recognized as a symptom of Pompe's disease (glycogen storage disease type II). We discovered quite unexpectedly 30-90 dB hearing loss in four infants with Pompe's d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::426a6fb3608ea5bd6a4a4910b83617fd
https://pure.eur.nl/en/publications/8dc4aef7-1621-4cc0-9f09-6ff9e88db889
https://pure.eur.nl/en/publications/8dc4aef7-1621-4cc0-9f09-6ff9e88db889
Autor:
Ger J. van der Vusse, Arnold J. J. Reuser, Gert Schaart, Anton J. M. Wagenmakers, Reinout P. Hesselink, Marchel Gorselink, Maarten R. Drost, Joep H. J. Kamphoven
Publikováno v:
Muscle & Nerve, 25(6), 873-883. Wiley
Muscle & Nerve, 25, 873-883. John Wiley & Sons Inc.
Muscle and nerve, 25(6), 873-883. Wiley
Muscle & Nerve, 25, 873-883. John Wiley & Sons Inc.
Muscle and nerve, 25(6), 873-883. Wiley
Department of Movement Sciences, Cardiovascular Research Institute, Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands. Reinout.Hesselink@BW.Unimaas.nlGlycogen storage disease type II (GSD II) is an inherited progressive muscle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7800b944bc456c6abcebe2049d756e3f
https://pubmed.ncbi.nlm.nih.gov/12115977
https://pubmed.ncbi.nlm.nih.gov/12115977
Autor:
Léon P. F. Winkel, Johanna M. P. Van den Hout, Joep H. J. Kamphoven, Janus A. M. Disseldorp, Maaike Remmerswaal, Willem F. M. Arts, M. Christa B. Loonen, Arnold G. Vulto, Pieter A. Van Doorn, Gerard De Jong, Wim Hop, G. Peter A. Smit, Stuart K. Shapira, Marijke A. Boer, Arnold J. J. Reuser, Ans T. Van der Ploeg, Otto P. van Diggelen
Publikováno v:
Annals of Neurology; Apr2004, Vol. 55 Issue 4, p495-502, 8p
Autor:
Léon P. F. Winkel, Joep H. J. Kamphoven, Hannerieke J. M. P. Van Den Hout, Lies A. Severijnen, Pieter A. Van Doorn, Arnold J. J. Reuser, Ans T. Van Der Ploeg
Publikováno v:
Muscle & Nerve; Jun2003, Vol. 27 Issue 6, p743-751, 9p