Rhabdomyolysis: Review of the literature
Zutt, R, van der Kooi, A.J, Linthorst, G.E, Wanders, R.J.A, de Visser, M
Published in Neuromuscular disorders : NMD (01.08.2014)
Published in Neuromuscular disorders : NMD (01.08.2014)
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Journal Article
Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance
Smid, B.E, van der Tol, L, Cecchi, F, Elliott, P.M, Hughes, D.A, Linthorst, G.E, Timmermans, J, Weidemann, F, West, M.L, Biegstraaten, M, Lekanne Deprez, R.H, Florquin, S, Postema, P.G, Tomberli, B, van der Wal, A.C, van den Bergh Weerman, M.A, Hollak, C.E
Published in International journal of cardiology (15.12.2014)
Published in International journal of cardiology (15.12.2014)
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Journal Article
Screening for Fabry disease in high-risk populations: a systematic review
Linthorst, G E, Bouwman, M G, Wijburg, F A, Aerts, J M F G, Poorthuis, B J H M, Hollak, C E M
Published in Journal of Medical Genetics (01.04.2010)
Published in Journal of Medical Genetics (01.04.2010)
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Journal Article
Book Review
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
Schiffmann, Raphael, Warnock, David G., Banikazemi, Maryam, Bultas, Jan, Linthorst, Gabor E., Packman, Seymour, Sorensen, Sven Asger, Wilcox, William R., Desnick, Robert J.
Published in Nephrology, dialysis, transplantation (01.07.2009)
Published in Nephrology, dialysis, transplantation (01.07.2009)
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Journal Article
The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels
Vedder, A. C., Linthorst, G. E., Breemen, M. J., Groener, J. E. M., Bemelman, F. J., Strijland, A., Mannens, M. M. A. M., Aerts, J. M. F. G., Hollak, C. E. M.
Published in Journal of inherited metabolic disease (01.02.2007)
Published in Journal of inherited metabolic disease (01.02.2007)
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Journal Article
Pain management strategies for neuropathic pain in Fabry disease--a systematic review
Schuller, Y, Linthorst, G E, Hollak, C E M, Van Schaik, I N, Biegstraaten, M
Published in BMC neurology (24.02.2016)
Published in BMC neurology (24.02.2016)
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Journal Article
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance
Smid, B.E., Hollak, C.E.M., Poorthuis, B.J.H.M., van den Bergh Weerman, M.A., Florquin, S., Kok, W.E.M., Lekanne Deprez, R.H., Timmermans, J., Linthorst, G.E.
Published in Clinical genetics (01.08.2015)
Published in Clinical genetics (01.08.2015)
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Journal Article
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients
Hollak, C.E.M., de Sonnaville, E.S.V., Cassiman, D., Linthorst, G.E., Groener, J.E., Morava, E., Wevers, R.A., Mannens, M., Aerts, J.M.F.G., Meersseman, W., Akkerman, E., Niezen-Koning, K.E., Mulder, M.F., Visser, G., Wijburg, F.A., Lefeber, D., Poorthuis, B.J.H.M.
Published in Molecular genetics and metabolism (01.11.2012)
Published in Molecular genetics and metabolism (01.11.2012)
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Journal Article
A revised home treatment algorithm for Fabry disease: Influence of antibody formation
Smid, B.E., Hoogendijk, S.L., Wijburg, F.A., Hollak, C.E.M., Linthorst, G.E.
Published in Molecular genetics and metabolism (01.02.2013)
Published in Molecular genetics and metabolism (01.02.2013)
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Journal Article
Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation
Bouwman, MG, Rombach, SM, Linthorst, GE, Poorthuis, BJHM, Lekanne Deprez, RH, Aerts, JMFG, Wijburg, FA
Published in Clinical genetics (01.11.2011)
Published in Clinical genetics (01.11.2011)
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Journal Article
Pharmacological small molecules for the treatment of lysosomal storage disorders
Smid, B E, Aerts, J M F G, Boot, R G, Linthorst, G E, Hollak, C E M
Published in Expert opinion on investigational drugs (01.11.2010)
Published in Expert opinion on investigational drugs (01.11.2010)
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Journal Article
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
van der Tol, L, Smid, B E, Poorthuis, B J H M, Biegstraaten, M, Deprez, R H Lekanne, Linthorst, G E, Hollak, C E M
Published in Journal of Medical Genetics (01.01.2014)
Published in Journal of Medical Genetics (01.01.2014)
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Journal Article
Book Review
What contributes to internists' willingness to disclose medical errors?
LINTHORST, G. E, KALLIMANIS-KING, B. L, DOUWES DEKKER, I, HOEKSTRA, J. B. L, DE HAES, J. C. J. M
Published in Netherlands journal of medicine (01.06.2012)
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Published in Netherlands journal of medicine (01.06.2012)
Journal Article
The success of a weekly medical quiz. Test-based medical education
LAUW, M. N, HOEKSTRA, J. B. L, LINTHORST, G. E
Published in Netherlands journal of medicine (01.04.2011)
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Published in Netherlands journal of medicine (01.04.2011)
Journal Article
Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation
WARNOCK, David G, ORTIZ, Alberto, LEMAY, Roberta, COLE, J. Alexander, SVARSTAD, Einar, WALDEK, Stephen, GERMAIN, Dominique P, WANNER, Christoph, MAUER, Michael, LINTHORST, Gabor E, OLIVEIRA, Joao P, SERRA, Andreas L, MARODI, László, MIGNANI, Renzo, VUJKOVAC, Bojan, BEITNER-JOHNSON, Dana
Published in Nephrology, dialysis, transplantation (01.03.2012)
Published in Nephrology, dialysis, transplantation (01.03.2012)
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Journal Article
Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease
Rombach, S.M., Dekker, N., Bouwman, M.G., Linthorst, G.E., Zwinderman, A.H., Wijburg, F.A., Kuiper, S., vd Bergh Weerman, M.A., Groener, J.E.M., Poorthuis, B.J., Hollak, C.E.M., Aerts, J.M.F.G.
Published in Biochimica et biophysica acta (01.09.2010)
Published in Biochimica et biophysica acta (01.09.2010)
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