Search Results - "van den Hout, Hannerieke"

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience by Niño, 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

“…Pompe disease is a lysosomal and neuromuscular disorder caused by deficiency of acid alpha-glucosidase (GAA), and causes classic infantile, childhood onset, or…”
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The Natural Course of Infantile Pompe's Disease: 20 Original Cases Compared With 133 Cases From the Literature by 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

“…Infantile Pompe's disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study…”
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Broad variation in phenotypes for common GAA genotypes in Pompe disease by 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

“…Patients with the common c.‐32‐13T > G/null GAA genotype have a broad variation in age at symptom onset, ranging from early childhood to late adulthood…”
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Up to five years experience with 11 mucopolysaccharidosis type VI patients by 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.

“…Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is a rare progressive metabolic disorder characterized by coarse facial features,…”
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Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II by 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

“…Mucopolysaccharidosis type II (OMIM 309900) is a lysosomal storage disorder caused by iduronate 2-sulfatase (IDS) deficiency and accumulation of…”
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A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI by 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

“…Identification and characterization of disease-associated variants in monogenic disorders is an important aspect of diagnosis, genetic counseling, prediction…”
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Perioperative management of children with glycogen storage disease type II—Pompe disease by Bosman, Linelot, Hoeks, Sanne E., González Candel, Antonia, Hout, Hannerieke J. M., Ploeg, Ans T., Staals, Lonneke M.

“…Summary Background Pompe disease is a rare metabolic disorder caused by a deficiency of the lysosomal enzyme acid α‐glucosidase. Glycogen accumulation damages…”
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Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy by 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.

“…Pompe's disease (glycogen storage disease type II) is an autosomal recessive myopathy caused by lysosomal α‐glucosidase deficiency. Enzyme replacement therapy…”
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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays by 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

“…Analyses in our diagnostic DNA laboratory include genes involved in autosomal recessive (AR) lysosomal storage disorders such as glycogenosis type II (Pompe…”
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A genetic modifier of symptom onset in Pompe disease by 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

“…Neonatal screening for Pompe disease is complicated by difficulties in predicting symptom onset in patients with the common c.-32-13T>G (IVS1) variant/null…”
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Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy by 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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Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse by 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

“…Hearing deficit occurs in several lysosomal storage disorders but has so far not been recognized as a symptom of Pompe's disease (glycogen storage disease type…”
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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-blind, randomised, placebo-controlled trial by 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.

“…Introduction This phase III, double-blind, randomised, placebo-controlled trial (and extension phase) was designed to assess the efficacy and safety of…”
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Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis by 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

“…Introduction Long-term outcome data provide important insights into the clinical utility of enzyme replacement therapies. Such data are presented for velmanase…”
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Anesthesiological approach to the floppy child by Tesoro, Simonetta, DE Robertis, Edoardo, Marturano, Federico, VAN DEN Hout, Hannerieke J, DE Graaff, Jurgen C

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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 by 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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Anaesthesiological approach to the floppy child by Tesoro, Simonetta, De Robertis, Edoardo, Marturano, Federico, van den Hout, Hannerieke J, De Graaff, Jurgen C

“…Children with symptoms of hypotonia (reduction of postural tone of lower limbs and trunk with or without changes in phasic tone) are frequently anaesthetized…”
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Recombinant human α-glucosidase from rabbit milk in Pompe patients by Van den Hout, Hannerieke, Reuser, Arnold JJ, Vulto, Arnold G, Christa B Loonen, M, Cromme-Dijkhuis, Adri, Van der Ploeg, Ans T

“…Pompe's disease is a fatal muscular disorder caused by lysosomal α-glucosidase deficiency. In an open-label study, four babies with characteristic…”
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Safety analysis of home-based enzyme replacement therapy with alglucosidase alfa in Pompe disease: A prospective study by 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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Enzyme therapy for Pompe disease: from science to industrial enterprise by Reuser, Arnold, Van den Hout, Hannerieke, Bijvoet, Agnes, Kroos, Marian, Verbeet, Martin, Van der Ploeg, Ans

“…Pompe disease or glycogen storage disease type II (OMIM 232300) is a metabolic myopathy with a broad clinical spectrum. Generalised muscle weakness combined…”
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