The Natural Course of Infantile Pompe's Disease: 20 Original Cases Compared With 133 Cases From the Literature von van den Hout, Hannerieke M. P, Hop, Wim, van Diggelen, Otto P, Smeitink, Jan A. M, Smit, G. Peter A, Poll-The, Bwee-Tien T, Bakker, Henk D, Loonen, M. Christa B, de Klerk, Johannis B. C, Reuser, Arnold J. J, van der Ploeg, Ans T

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Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience von Nino, Monica Y., Wijgerde, Mark, de Faria, Douglas Oliveira Soares, Hoogeveen-Westerveld, Marianne, Bergsma, Atze J., Broeders, Mike, van der Beek, Nadine A. M. E., van den Hout, Hannerieke J. M., van der Ploeg, Ans T., Verheijen, Frans W., Pijnappel, W. W. M. Pim

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Broad variation in phenotypes for common GAA genotypes in Pompe disease von Niño, Monica Y., in't Groen, Stijn L. M., Faria, Douglas O. S., Hoogeveen‐Westerveld, Marianne, Hout, Hannerieke J. M. P., Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W. W. M. Pim

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Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II von Catalano, Fabio, Vlaar, Eva C., Katsavelis, Drosos, Dammou, Zina, Huizer, Tessa F., van den Bosch, Jeroen C., Hoogeveen-Westerveld, Marianne, van den Hout, Hannerieke J.M.P., Oussoren, Esmeralda, Ruijter, George J.G., Schaaf, Gerben, Pike-Overzet, Karin, Staal, Frank J.T., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim

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Perioperative management of children with glycogen storage disease type II—Pompe disease von Bosman, Linelot, Hoeks, Sanne E., González Candel, Antonia, Hout, Hannerieke J. M., Ploeg, Ans T., Staals, Lonneke M.

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Up to five years experience with 11 mucopolysaccharidosis type VI patients von Brands, Marion M.M.G., Oussoren, Esmee, Ruijter, George J.G., Vollebregt, Audrey A.M., van den Hout, Hannerieke M.P., Joosten, Koen F.M., Hop, Wim C.J., Plug, Iris, van der Ploeg, Ans T.

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A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI von Broeders, Mike, Smits, Kasper, Goynuk, Busra, Oussoren, Esmee, van den Hout, Hannerieke J.M.P., Bergsma, Atze J., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim

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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays von Labrijn-Marks, Ineke, Somers-Bolman, Galhana M, In 't Groen, Stijn L M, Hoogeveen-Westerveld, Marianne, Kroos, Marian A, Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara Sa, Mavridou, Irene, Michelakakis, Helen, Naess, Karin, Verheijen, Frans W, Hoefsloot, Lies H, Dijkhuizen, Trijnie, Benjamins, Marloes, van den Hout, Hannerieke J M, van der Ploeg, Ans T, Pijnappel, W W M Pim, Saris, Jasper J, Halley, Dicky J

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A genetic modifier of symptom onset in Pompe disease von Bergsma, Atze J., in 't Groen, Stijn L.M., van den Dorpel, Jan J.A., van den Hout, Hannerieke J.M.P., van der Beek, Nadine A.M.E., Schoser, Benedikt, Toscano, Antonio, Musumeci, Olimpia, Bembi, Bruno, Dardis, Andrea, Morrone, Amelia, Tummolo, Albina, Pasquini, Elisabetta, van der Ploeg, Ans T., Pijnappel, W.W.M. Pim

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Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-bl... von Borgwardt, Line, Guffon, Nathalie, Amraoui, Yasmina, Dali, Christine I., De Meirleir, Linda, Gil-Campos, Mercedes, Heron, Bénédicte, Geraci, Silvia, Ardigò, Diego, Cattaneo, Federica, Fogh, Jens, Van den Hout, J. M. Hannerieke, Beck, Michael, Jones, Simon A., Tylki-Szymanska, Anna, Haugsted, Ulla, Lund, Allan M.

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Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy von Demirdas, Serwet, van Slegtenhorst, Marjon A., Verdijk, Robert M., Lee, Max, van den Hout, Hannerieke M.P., Wessels, Marja W., Frohn-Mulder, Ingrid M.E., Gardeitchik, Thatjana, van der Ploeg, Ans T., Schaaf, Gerben J.

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Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy von Winkel, Léon P. F., Kamphoven, Joep H. J., Van Den Hout, Hannerieke J. M. P., Severijnen, Lies A., Van Doorn, Pieter A., Reuser, Arnold J. J., Van Der Ploeg, Ans T.

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Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis von Lund, Allan M., Borgwardt, Line, Cattaneo, Federica, Ardigò, Diego, Geraci, Silvia, Gil-Campos, Mercedes, De Meirleir, Linda, Laroche, Cécile, Dolhem, Philippe, Cole, Duncan, Tylki-Szymanska, Anna, Lopez-Rodriguez, Monica, Guillén-Navarro, Encarna, Dali, Christine I., Héron, Bénédicte, Fogh, Jens, Muschol, Nicole, Phillips, Dawn, Van den Hout, J. M. Hannerieke, Jones, Simon A., Amraoui, Yasmina, Harmatz, Paul, Guffon, Nathalie

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Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse von Kamphoven, Joep H.J, de Ruiter, Martijn M, Winkel, Leon P.F, Van den Hout, Hannerieke M.P, Bijman, Jan, De Zeeuw, Chris I, Hoeve, Hans L, Van Zanten, Bert A, Van der Ploeg, Ans T, Reuser, Arnold J.J

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P029: Early treatment with alglucosidase alfa is associated with improved survival in patients with infantile-onset Pompe disease: Data from Pompe Registry von Kishnani, Priya, Stockton, David, Hahn, Andreas, Llerena, Juan, Broomfield, Alexander, Batista, Julie, Foster, Meredith, Wilson, Kathryn, Sparks, Susan, van den Hout, Hannerieke, Chien, Yin-Hsiu

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Recombinant human α-glucosidase from rabbit milk in Pompe patients von Van den Hout, Hannerieke, Reuser, Arnold JJ, Vulto, Arnold G, Christa B Loonen, M, Cromme-Dijkhuis, Adri, Van der Ploeg, Ans T

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Safety analysis of home-based enzyme replacement therapy with alglucosidase alfa in Pompe disease: A prospective study von Ditters, Imke A.M., van der Ploeg, Ans T., van der Beek, Nadine A.M.E., van den Hout, Hannerieke (.J).M.P., Huidekoper, Hidde H.

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Safety of home-based infusion of alglucosidase alfa in late onset Pompe disease: 13 years of experience from the Erasmus MC University Medical Center von Ditters, Imke A.M., van Kooten, Harmke, van der Beek, Nadine A.M.E., van den Hout, Hannerieke, Huidekoper, Hidde H., van der Ploeg, Ans T.

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Framework for Multistakeholder Patient Registries in the Field of Rare Diseases von Schoenmakers, Daphne H, van den Berg, Sibren, Timmers, Lonneke, Adang, Laura A, Baumer, Tobias, Bosch, Annet, van de Casteele, Marc, Datema, Mareen R, Dekker, Hanka, Donnelly, Conan, Driessens, Mariette H.E, Graessner, Holm, Greger, Valerie, Haddad, Tala, Hoglinger, Gunter U, van den Hout, Hannerieke, Jonker, Carla, Langeveld, Mirjam, Lambert, Laurie J, Neacy, Eileen, Nieuwland, Marc, Klockgether, Thomas, van der Knaap, Marjo S, Papadopoulou, Andri, Plueschke, Kelly, van Rijn, Sanne, Rosenberg, Noa, Saunier-Vivar, Elise F, Vieira, Bruna dos Santos, Hollak, Carla E.M, Goettsch, Wim G, Wolf, Nicole I

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Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases von Schoenmakers, Daphne H, van den Berg, Sibren, Timmers, Lonneke, Adang, Laura A, Bäumer, Tobias, Bosch, Annet, van de Casteele, Marc, Datema, Mareen R, Dekker, Hanka, Donnelly, Conan, Driessens, Mariëtte H E, Graessner, Holm, Greger, Valerie, Haddad, Tala, Höglinger, Günter U, van den Hout, Hannerieke, Jonker, Carla, Langeveld, Mirjam, Lambert, Laurie J, Neacy, Eileen, Nieuwland, Marc, Klockgether, Thomas, van der Knaap, Marjo S, Papadopoulou, Andri, Plueschke, Kelly, van Rijn, Sanne, Rosenberg, Noa, Saunier-Vivar, Elise F, Dos Santos Vieira, Bruna, Hollak, Carla E M, Goettsch, Wim G, Wolf, Nicole I

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