Zobrazeno 1 - 10
of 233
pro vyhledávání: '"S Waldek"'
Autor:
K Wyatt, W Henley, L Anderson, R Anderson, V Nikolaou, K Stein, L Klinger, D Hughes, S Waldek, R Lachmann, A Mehta, A Vellodi, S Logan
Publikováno v:
Health Technology Assessment, Vol 16, Iss 39 (2012)
Objectives: To determine natural history and estimate effectiveness and cost of enzyme replacement therapy (ERT) and substrate replacement therapy (SRT) for patients with Gaucher disease, Fabry disease, mucopolysaccharidosis type I (MPS I), mucopolys
Externí odkaz:
https://doaj.org/article/e4ab7d781a084a9ba379ac400a2cc8bc
Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Autor:
Claudio Feliciani, S. Waldek, M Beck, Atul Mehta, Ilkka Kantola, A Rivera, François Eyskens, Arndt Rolfs, Dominique P. Germain, Uma Ramaswami
Publikováno v:
QJM. 103:641-659
Fabry disease is an X-linked inherited condition due to the absence or reduction of alpha-galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide (Gb3) and related neutral glycosphingolipids. Manifestations of Fabry
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88f8315f0311c7249a118d8499ddf510
https://doi.org/10.1093/qjmed/hcq117
https://doi.org/10.1093/qjmed/hcq117
Autor:
David G. Warnock, Alberto Ortiz, Christoph Wanner, Bruno Cianciaruso, S. Waldek, João Paulo Oliveira
Publikováno v:
Nephrology Dialysis Transplantation. 23:1600-1607
Fabry disease, an X-linked genetic disorder with deficient alpha-galactosidase A activity, is characterized by kidney disease and kidney failure. The spectrum of kidney disease has not been well defined, especially in female patients.We did a cross-s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68a9b71aa583a6861eb74da4e3a1b08f
https://doi.org/10.1093/ndt/gfm848
https://doi.org/10.1093/ndt/gfm848
Publikováno v:
Journal of Inherited Metabolic Disease. 30:943-951
Anderson-Fabry disease (AFD), an X-linked lysosomal storage disorder, leads to multi-organ dysfunction and premature mortality. Depression in adults with AFD has been reported, but no large study has been done. We have examined the adult Fabry popula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21bad9df5b9581f9650fafacc49ed775
https://doi.org/10.1007/s10545-007-0708-6
https://doi.org/10.1007/s10545-007-0708-6
Publikováno v:
Acta Paediatrica. 94:51-54
Aim: The aim of this study was to determine whether globotriaosylceramide (Gb 3 ) is a useful biomarker in Fabry disease. Methods: The levels of Gb 3 were measured in plasma and urine by tandem mass spectrometry in untreated hemizygotes and heterozyg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::019119c9999d04c5ab7532a2cd400e53
https://doi.org/10.1111/j.1651-2227.2005.tb02112.x
https://doi.org/10.1111/j.1651-2227.2005.tb02112.x
Publikováno v:
Acta Paediatrica. 94:51-54
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::98353e48e719f9fb965fd9e88c0e0d7a
https://doi.org/10.1080/08035320510028111
https://doi.org/10.1080/08035320510028111
Autor:
Ching Cheung, Philip A. Kalra, Julian Wright, Robert N. Foley, S. Waldek, Donal O'Donoghue, Hari Mamtora, Ala’a E. Shurrab
Publikováno v:
American Journal of Kidney Diseases. 39:1153-1161
Atherosclerotic renovascular disease (ARVD) commonly causes renal failure and hypertension and is accompanied by high cardiovascular comorbidity and mortality. Interrelationships between these factors remain poorly understood. Patients with ARVD pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03376bc54aa4700454b25c0d0e5bd6a8
https://doi.org/10.1053/ajkd.2002.33384
https://doi.org/10.1053/ajkd.2002.33384
Autor:
Robert J. Desnick, Dominique P. Germain, Nathalie Guffon, William R. Wilcox, Christine M. Eng, S. Waldek, Gabor E. Linthorst, Philip J. Lee, Louis R. Caplan
Publikováno v:
The New England journal of medicine, 345, 9-16. Massachussetts Medical Society
New England journal of medicine, 345(1), 9-16. Massachussetts Medical Society
New England journal of medicine, 345(1), 9-16. Massachussetts Medical Society
Fabry's disease, lysosomal alpha-galactosidase A deficiency, results from the progressive accumulation of globotriaosylceramide and related glycosphingolipids. Affected patients have microvascular disease of the kidneys, heart, and brain. We evaluate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a739054ff378117459b49a3c88894081
https://hdl.handle.net/11245/1.180020
https://hdl.handle.net/11245/1.180020