Uremic Thrombocytopathy Is not about Urea

Por Linthorst, Gabor E., Avis, Hans J., Levi, Marcel
Publicado em 2010

Letter concerning “Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha”, by Tanaka et...

Por Linthorst, Gabor E., Aerts, Johannes M. F. G.
Publicado em 2010

Cost-effectiveness of enzyme replacement therapy for Fabry disease

Por Rombach, Saskia M, Hollak, Carla EM, Linthorst, Gabor E, Dijkgraaf, Marcel GW
Publicado em 2013

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

Por Berendse, Kevin, Engelen, Marc, Linthorst, Gabor E, van Trotsenburg, AS Paul, Poll–The, Bwee Tien
Publicado em 2014

Poikilothermia in a 38-year-old Fabry patient

Por Biegstraaten, Marieke, van Schaik, Ivo N., Hollak, Carla E. M., Wieling, Wouter, Linthorst, Gabor E.
Publicado em 2010

Recombinant Enzyme Therapy for Fabry Disease: Absence of Editing of Human α-Galactosidase A mRNA

Por Blom, Daniël, Speijer, Dave, Linthorst, Gabor E., Donker-Koopman, Wilma G., Strijland, Anneke, Aerts, Johannes M. F. G.
Publicado em 2003

Long-Term Safety and Efficacy of Enzyme Replacement Therapyfor Fabry Disease

Por Wilcox, William R., Banikazemi, Maryam, Guffon, Nathalie, Waldek, Stephen, Lee, Philip, Linthorst, Gabor E., Desnick, Robert J., Germain, Dominique P.
Publicado em 2004

Prevalence of symptoms in female Fabry disease patients: a case-control survey

Por Bouwman, Machtelt G., Rombach, Saskia M., Schenk, Erica, Sweeb, Annelies, Wijburg, Frits A., Hollak, Carla E. M., Linthorst, Gabor E.
Publicado em 2012

Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

Por Rombach, Saskia M, Smid, Bouwien E, Bouwman, Machtelt G, Linthorst, Gabor E, Dijkgraaf, Marcel G W, Hollak, Carla E M
Publicado em 2013

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

Por Schiffmann, Raphael, Warnock, David G., Banikazemi, Maryam, Bultas, Jan, Linthorst, Gabor E., Packman, Seymour, Sorensen, Sven Asger, Wilcox, William R., Desnick, Robert J.
Publicado em 2009

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

Por Arends, Maarten, Wanner, Christoph, Hughes, Derralynn, Mehta, Atul, Oder, Daniel, Watkinson, Oliver T., Elliott, Perry M., Linthorst, Gabor E., Wijburg, Frits A., Biegstraaten, Marieke, Hollak, Carla E.
Publicado no J Am Soc Nephrol (2017)

Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients

Por Smid, Bouwien E, Rombach, Saskia M, Aerts, Johannes MFG, Kuiper, Symen, Mirzaian, Mina, Overkleeft, Hermen S, Poorthuis, Ben JHM, Hollak, Carla EM, Groener, Johanna EM, Linthorst, Gabor E
Publicado em 2011

Treatment of Fabry Disease: Outcome of a Comparative Trial with Agalsidase Alfa or Beta at a Dose of 0.2 mg/kg

Por Vedder, Anouk C., Linthorst, Gabor E., Houge, Gunnar, Groener, Johannna E.M., Ormel, Els E., Bouma, Berto J., Aerts, Johannes M.F.G., Hirth, Asle, Hollak, Carla E.M.
Publicado em 2007

Prognostic Indicators of Renal Disease Progression in Adults with Fabry Disease: Natural History Data from the Fabry Registry

Por Wanner, Christoph, Oliveira, João P., Ortiz, Alberto, Mauer, Michael, Germain, Dominique P., Linthorst, Gabor E., Serra, Andreas L., Maródi, László, Mignani, Renzo, Cianciaruso, Bruno, Vujkovac, Bojan, Lemay, Roberta, Beitner-Johnson, Dana, Waldek, Stephen, Warnock, David G.
Publicado em 2010

Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)Gb3 Reduction and Treatment Outcome

Por Rombach, Saskia M., Aerts, Johannes M. F. G., Poorthuis, Ben J. H. M., Groener, Johanna E. M., Donker-Koopman, Wilma, Hendriks, Erik, Mirzaian, Mina, Kuiper, Sijmen, Wijburg, Frits A., Hollak, Carla E. M., Linthorst, Gabor E.
Publicado em 2012

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

Por Germain, Dominique P, Charrow, Joel, Desnick, Robert J, Guffon, Nathalie, Kempf, Judy, Lachmann, Robin H, Lemay, Roberta, Linthorst, Gabor E, Packman, Seymour, Scott, C Ronald, Waldek, Stephen, Warnock, David G, Weinreb, Neal J, Wilcox, William R
Publicado no J Med Genet (2015)

Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

Por van der Tol, L., Cassiman, David, Houge, Gunnar, Janssen, Mirian C., Lachmann, Robin H, Linthorst, Gabor E, Ramaswami, Uma, Sommer, Claudia, Tøndel, Camilla, West, Michael L, Weidemann, Frank, Wijburg, Frits A, Svarstad, Einar, Hollak, Carla EM, Biegstraaten, Marieke
Publicado no JIMD Rep (2014)

Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation

Por Warnock, David G., Ortiz, Alberto, Mauer, Michael, Linthorst, Gabor E., Oliveira, João P., Serra, Andreas L., Maródi, László, Mignani, Renzo, Vujkovac, Bojan, Beitner-Johnson, Dana, Lemay, Roberta, Cole, J.Alexander, Svarstad, Einar, Waldek, Stephen, Germain, Dominique P., Wanner, Christoph
Publicado em 2012

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

Por Aerts, Johannes M., Groener, Johanna E., Kuiper, Sijmen, Donker-Koopman, Wilma E., Strijland, Anneke, Ottenhoff, Roelof, van Roomen, Cindy, Mirzaian, Mina, Wijburg, Frits A., Linthorst, Gabor E., Vedder, Anouk C., Rombach, Saskia M., Cox-Brinkman, Josanne, Somerharju, Pentti, Boot, Rolf G., Hollak, Carla E., Brady, Roscoe O., Poorthuis, Ben J.
Publicado em 2008

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

Por Aerts, Johannes M. F. G., Kallemeijn, Wouter W., Wegdam, Wouter, Joao Ferraz, Maria, van Breemen, Marielle J., Dekker, Nick, Kramer, Gertjan, Poorthuis, Ben J., Groener, Johanna E. M., Cox-Brinkman, Josanne, Rombach, Saskia M., Hollak, Carla E. M., Linthorst, Gabor E., Witte, Martin D., Gold, Henrik, van der Marel, Gijs A., Overkleeft, Herman S., Boot, Rolf G.
Publicado em 2011