Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start
Stelten, Bianca M L, Huidekoper, Hidde H, van de Warrenburg, Bart P C, Brilstra, Eva H, Hollak, Carla E M, Haak, Harm R, Kluijtmans, Leo A J, Wevers, Ron A, Verrips, Aad
Published in Neurology (08.01.2019)
Published in Neurology (08.01.2019)
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Vascular Aspects of Fabry Disease in Relation to Clinical Manifestations and Elevations in Plasma Globotriaosylsphingosine
Rombach, Saskia M, van den Bogaard, Bas, de Groot, Eric, Groener, Johanna E.M, Poorthuis, Ben J, Linthorst, Gabor E, van den Born, Bert-Jan H, Hollak, Carla E.M, Aerts, Johannes M.F.G
Published in Hypertension (Dallas, Tex. 1979) (01.10.2012)
Published in Hypertension (Dallas, Tex. 1979) (01.10.2012)
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Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria"
Demirdas, Serwet, van Spronsen, Francjan J, Hollak, Carla E M, van der Lee, J Hanneke, Bisschop, Peter H, Vaz, Fred M, Ter Horst, Nienke M, Rubio-Gozalbo, M Estela, Bosch, Annet M
Published in Annals of nutrition and metabolism (01.01.2018)
Published in Annals of nutrition and metabolism (01.01.2018)
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Journal Article
Clinical impact of the worldwide shortage of verteporfin (Visudyne®) on ophthalmic care
Sirks, Marc J., van Dijk, Elon H.C., Rosenberg, Noa, Hollak, Carla E.M., Aslanis, Stamatios, Cheung, Chui Ming Gemmy, Chowers, Itay, Eandi, Chiara M., Freund, K. Bailey, Holz, Frank G., Kaiser, Peter K., Lotery, Andrew J., Ohno‐Matsui, Kyoko, Querques, Giuseppe, Subhi, Yousif, Tadayoni, Ramin, Wykoff, Charles C., Zur, Dinah, Diederen, Roselie M.H., Boon, Camiel J.F., Schlingemann, Reinier O.
Published in Acta ophthalmologica (Oxford, England) (01.11.2022)
Published in Acta ophthalmologica (Oxford, England) (01.11.2022)
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Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content
Simons, Nynke, Debray, François-Guillaume, Schaper, Nicolaas C, Kooi, M Eline, Feskens, Edith J M, Hollak, Carla E M, Lindeboom, Lucas, Koek, Ger H, Bons, Judith A P, Lefeber, Dirk J, Hodson, Leanne, Schalkwijk, Casper G, Stehouwer, Coen D A, Cassiman, David, Brouwers, Martijn C G J
Published in The journal of clinical endocrinology and metabolism (01.11.2019)
Published in The journal of clinical endocrinology and metabolism (01.11.2019)
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Drug Repurposing for Rare Diseases: A Role for Academia
van den Berg, Sibren, de Visser, Saco, Leufkens, Hubert G.M., Hollak, Carla E.M.
Published in Frontiers in pharmacology (20.10.2021)
Published in Frontiers in pharmacology (20.10.2021)
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Fertility in adult women with classic galactosemia and primary ovarian insufficiency
van Erven, Britt, M.D., Ph.D, Berry, Gerard T., M.D, Cassiman, David, M.D., Ph.D, Connolly, Geraldine, M.D, Forga, Maria, M.D, Gautschi, Matthias, M.D., Ph.D, Gubbels, Cynthia S., M.D., Ph.D, Hollak, Carla E.M., M.D., Ph.D, Janssen, Mirian C., M.D., Ph.D, Knerr, Ina, M.D., Ph.D, Labrune, Philippe, M.D., Ph.D, Langendonk, Janneke G., M.D., Ph.D, Õunap, Katrin, M.D., Ph.D, Thijs, Abel, M.D., Ph.D, Vos, Rein, Ph.D, Wortmann, Saskia B., M.D., Ph.D, Rubio-Gozalbo, M. Estela, M.D., Ph.D
Published in Fertility and sterility (01.07.2017)
Published in Fertility and sterility (01.07.2017)
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Low frequency maintenance therapy with imiglucerase in adult type I Gaucher disease: a prospective randomized controlled trial
de Fost, Maaike, Aerts, Johannes M.F.G, Groener, Johanna E.M, Maas, Mario, Akkerman, Erik M, Wiersma, Maaike G, Hollak, Carla E.M
Published in Haematologica (Roma) (01.02.2007)
Published in Haematologica (Roma) (01.02.2007)
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Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy
van Rappard, Diane F, Bugiani, Marianna, Boelens, Jaap J, van der Steeg, Alida F W, Daams, Freek, de Meij, Tim G J, van Doorn, Martine M A C, van Hasselt, Peter M, Gouma, Dirk J, Verbeke, Jonathan I M L, Hollak, Carla E M, van Hecke, Wim, Salomons, Gajja S, van der Knaap, Marjo S, Wolf, Nicole I
Published in Neurology (05.07.2016)
Published in Neurology (05.07.2016)
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Predictors of objective cognitive impairment and subjective cognitive complaints in patients with Fabry disease
Körver, Simon, Geurtsen, Gert J., Hollak, Carla E. M., van Schaik, Ivo N., Longo, Maria G. F., Lima, Marjana R., Vedolin, Leonardo, Dijkgraaf, Marcel G. W., Langeveld, Mirjam
Published in Scientific reports (17.01.2019)
Published in Scientific reports (17.01.2019)
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Assessment of plasma acylcarnitines before and after weight loss in obese subjects
Schooneman, Marieke G., Napolitano, Antonella, Houten, Sander M., Ambler, Graeme K., Murgatroyd, Peter R., Miller, Sam R., Hollak, Carla E.M., Tan, Chong Y., Virtue, Samuel, Vidal-Puig, Antonio, Nunez, Derek J., Soeters, Maarten R.
Published in Archives of biochemistry and biophysics (15.09.2016)
Published in Archives of biochemistry and biophysics (15.09.2016)
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Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg
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
Published in PloS one (11.07.2007)
Published in PloS one (11.07.2007)
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Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients
Hermans, Merel E., Geurtsen, Gert J., Hollak, Carla E. M., Bosch, Annet M.
Published in JIMD reports (01.03.2024)
Published in JIMD reports (01.03.2024)
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Miglustat therapy in type 1 Gaucher disease: Clinical and safety outcomes in a multicenter retrospective cohort study
Kuter, David J., Mehta, Atul, Hollak, Carla E.M., Giraldo, Pilar, Hughes, Derralynn, Belmatoug, Nadia, Brand, Monika, Muller, Audrey, Schaaf, Berthold, Giorgino, Ruben, Zimran, Ari
Published in Blood cells, molecules, & diseases (01.08.2013)
Published in Blood cells, molecules, & diseases (01.08.2013)
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The attenuated/late onset lysosomal storage disorders: Therapeutic goals and indications for enzyme replacement treatment in Gaucher and Fabry disease
Hollak, Carla E.M., MD, PhD, Weinreb, Neal J., MD
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.03.2015)
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.03.2015)
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Journal Article
Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria
Demirdas, Serwet, van Spronsen, Francjan J., Hollak, Carla E.M., van der Lee, J. Hanneke, Bisschop, Peter H., Vaz, Fred M., ter Horst, Nienke M., Rubio-Gozalbo, M. Estela, Bosch, Annet M.
Published in Annals of nutrition and metabolism (01.01.2017)
Published in Annals of nutrition and metabolism (01.01.2017)
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