Quality of life in patients with Fabry disease: a systematic review of the literature

Por Arends, Maarten, Hollak, Carla E. M., Biegstraaten, Marieke
Publicado no Orphanet J Rare Dis (2015)

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

Bone health in phenylketonuria: a systematic review and meta-analysis

Por Demirdas, Serwet, Coakley, Katie E, Bisschop, Peter H, Hollak, Carla E M, Bosch, Annet M, Singh, Rani H
Publicado no Orphanet J Rare Dis (2015)

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

Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease

Por Shu, Liming, Vivekanandan-Giri, Anuradha, Pennathur, Subramaniam, Smid, Bouwien E, Aerts, Johannes M FG, Hollak, Carla E M, Shayman, James A
Publicado em 2014

In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease

Por van der Tol, Linda, Verhamme, Camiel, van Schaik, Ivo N., van der Kooi, Anneke J., Hollak, Carla E. M., Biegstraaten, Marieke
Publicado no JIMD Rep (2015)

Liver Fibrosis in Type I Gaucher Disease: Magnetic Resonance Imaging, Transient Elastography and Parameters of Iron Storage

Por Bohte, Anneloes E., van Dussen, Laura, Akkerman, Erik M., Nederveen, Aart J., Sinkus, Ralph, Jansen, Peter L. M., Stoker, Jaap, Hollak, Carla E. M.
Publicado em 2013

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1

Por Grabowski, Gregory A., Kacena, Katherine, Cole, J. Alexander, Hollak, Carla E. M., Zhang, Lin, Yee, John, Mistry, Pramod K., Zimran, Ari, Charrow, Joel, vom Dahl, Stephan
Publicado em 2009

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

The cognitive profile of type 1 Gaucher disease patients

Por Biegstraaten, Marieke, Wesnes, Keith A., Luzy, Cécile, Petakov, Milan, Mrsic, Mirando, Niederau, Claus, Giraldo, Pilar, Hughes, Derralynn, Mehta, Atul, Mengel, Karl-Eugen, Hollak, Carla E. M, Maródi, László, van Schaik, Ivo N.
Publicado em 2012

Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes

Por van Dussen, Laura, Cox, Timothy M., Hendriks, Erik J., Morris, Elizabeth, Akkerman, Erik M., Maas, Mario, Groener, Johanna E. M., Aerts, Johannes M.F.G., Deegan, Patrick B., Hollak, Carla E. M.
Publicado em 2012

High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial

Por ten Hoedt, Amber E., de Sonneville, Leo M. J., Francois, Baudouin, ter Horst, Nienke M., Janssen, Mirian C. H., Rubio-Gozalbo, M. Estela, Wijburg, Frits A., Hollak, Carla E. M., Bosch, Annet M.
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

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

Por Dekker, Nick, van Dussen, Laura, Hollak, Carla E. M., Overkleeft, Herman, Scheij, Saskia, Ghauharali, Karen, van Breemen, Mariëlle J., Ferraz, Maria J., Groener, Johanna E. M., Maas, Mario, Wijburg, Frits A., Speijer, Dave, Tylki-Szymanska, Anna, Mistry, Pramod K., Boot, Rolf G., Aerts, Johannes M.
Publicado em 2011

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

Por Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J.
Publicado no J Inherit Metab Dis (2016)

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

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks

Por Hollak, Carla E. M., Biegstraaten, Marieke, Baumgartner, Matthias R., Belmatoug, Nadia, Bembi, Bruno, Bosch, Annet, Brouwers, Martijn, Dekker, Hanka, Dobbelaere, Dries, Engelen, Marc, Groenendijk, Marike C., Lachmann, Robin, Langendonk, Janneke G., Langeveld, Mirjam, Linthorst, Gabor, Morava, Eva, Poll-The, Bwee Tien, Rahman, Shamima, Rubio-Gozalbo, M. Estela, Spiekerkoetter, Ute, Treacy, Eileen, Wanders, Ronald, Zschocke, Johannes, Hagendijk, Rob
Publicado no Orphanet J Rare Dis (2016)

Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage

Por Linthorst, Gabor E., Burlina, Alessandro P., Cecchi, Franco, Cox, Timothy M., Fletcher, Janice M., Feldt-Rasmussen, Ulla, Giugliani, Roberto, Hollak, Carla E. M., Houge, Gunnar, Hughes, Derralynn, Kantola, Iikka, Lachmann, Robin, Lopez, Monica, Ortiz, Alberto, Parini, Rossella, Rivera, Alberto, Rolfs, Arndt, Ramaswami, Uma, Svarstad, Einar, Tondel, Camilla, Tylki-Szymanska, Anna, Vujkovac, Bojan, Waldek, Steven, West, Michael, Weidemann, F., Mehta, Atul
Publicado em 2012