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Homozygous deletion of exon 18 leads to degradation of the lysosomal α-glucosidase precursor and to the infantile form of glycogen storage disease type II.
Published in:
Clinical Genetics, 1996, v. 49, n. 6, p. 325, doi. 10.1111/j.1399-0004.1996.tb03801.x
By:
- Ausems, Margreet G. E. M.;
- Kroos, Marian A.;
- Kraan, Magna;
- Smeitink, Jan A. M.;
- Kleijer, Wim J.;
- Amstel, Hans Kristian Ploos;
- Reuser, Arnold J. J.
Publication type:
Article
Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0303-0
By:
- van den Berg, Linda E. M.;
- Favejee, Marein M.;
- Wens, Stephan C. A.;
- Kruijshaar, Michelle E.;
- Praet, Stephan F. E.;
- Reuser, Arnold J. J.;
- Bussmann, Johannes B. J.;
- van Doorn, Pieter A.;
- van der Ploeg, Ans T.
Publication type:
Article
Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 87, doi. 10.1186/s13023-015-0303-0
By:
- van den Berg, Linda E. M.;
- Favejee, Marein M.;
- Wens, Stephan C. A.;
- Kruijshaar, Michelle E.;
- Praet, Stephan F. E.;
- Reuser, Arnold J. J.;
- Bussmann, Johannes B. J.;
- van Doorn, Pieter A.;
- van der Ploeg, Ans T.
Publication type:
Article
Phenotypical variation within 22 families with Pompe disease.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-182
By:
- Wens, Stephan C. A.;
- van Gelder, Carin M.;
- Kruijshaar, Michelle E.;
- de Vries, Juna M.;
- van der Beek, Nadine A. M. E.;
- Reuser, Arnold J. J.;
- van Doorn, Pieter A.;
- van der Ploeg, Ans T.;
- Brusse, Esther
Publication type:
Article
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-51
By:
- Brands, Marion M.;
- Hoogeveen-Westerveld, Marianne;
- Kroos, Marian A.;
- Nobel, Willemieke;
- Ruijter, George J.;
- Özkan, Lale;
- Plug, Iris;
- Grinberg, Daniel;
- Vilageliu, Lluïsa;
- Halley, Dicky J.;
- van der Ploeg, Ans T.;
- Reuser, Arnold J.
Publication type:
Article
Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-49
By:
- Güngör, Deniz;
- Kruijshaar, Michelle E.;
- Plug, Iris;
- D'Agostino Sr., Ralph B.;
- Hagemans, Marloes L. C.;
- van Doorn, Pieter A.;
- Reuser, Arnold J. J.;
- van der Ploeg, Ans T.
Publication type:
Article
Phenotypical variation within 22 families with Pompe disease.
Published in:
2013
By:
- Wens, Stephan C A;
- van Gelder, Carin M;
- Kruijshaar, Michelle E;
- de Vries, Juna M;
- van der Beek, Nadine A M E;
- Reuser, Arnold J J;
- van Doorn, Pieter A;
- van der Ploeg, Ans T;
- Brusse, Esther
Publication type:
journal article
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Published in:
2013
By:
- Brands, Marion M;
- Hoogeveen-Westerveld, Marianne;
- Kroos, Marian A;
- Nobel, Willemieke;
- Ruijter, George J;
- Ozkan, Lale;
- Plug, Iris;
- Grinberg, Daniel;
- Vilageliu, Lluïsa;
- Halley, Dicky J;
- Ploeg, Ans T van der;
- Reuser, Arnold J;
- Özkan, Lale;
- van der Ploeg, Ans T
Publication type:
journal article
Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study.
Published in:
2013
By:
- Güngör, Deniz;
- Kruijshaar, Michelle E;
- Plug, Iris;
- D'Agostino, Ralph B;
- Hagemans, Marloes Lc;
- van Doorn, Pieter A;
- Reuser, Arnold Jj;
- van der Ploeg, Ans T;
- Hagemans, Marloes L C;
- Reuser, Arnold J J
Publication type:
journal article
Public support for neonatal screening for Pompe disease, a broad-phenotype condition.
Published in:
2012
By:
- Weinreich, Stephanie Shifra;
- Rigter, Tessel;
- van El, Carla Geertruida;
- Dondorp, Wybo Jan;
- Kostense, Pieter Johannes;
- van der Ploeg, Ans T;
- Reuser, Arnold J J;
- Cornel, Martina Cornelia;
- Hagemans, Marloes Louise Catharina
Publication type:
journal article
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 88, doi. 10.1186/1750-1172-7-88
By:
- M.E. van der Beek, Nadine A.;
- de Vries, Juna M.;
- C. Hagemans, Marloes L.;
- Wim C.J. Hop;
- Kroos, Marian A.;
- J. Wokke, John H.;
- de Visser, Marianne;
- M. van Engelen, Baziel G.;
- M. Kuks, Jan B.;
- van der Kooi, Anneke J.;
- Notermans, Nicolette C.;
- Faber, Karin G.;
- G.M. Verschuuren, Jan J.;
- J. Reuser, Arnold J.;
- van der Ploeg, Ans T.;
- van Doom, Pieter A.
Publication type:
Article
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 73, doi. 10.1186/1750-1172-7-73
By:
- de Vries, Juna M.;
- A.M.E. van der Beek, Nadine;
- J. Hop, Wim C.;
- J. Karstens, Francois P.;
- Wokke, John H.;
- de Visser, Marianne;
- M. van Engelen, Baziel G.;
- M. Kuks, Jan B.;
- van der Kooi, Anneke J.;
- Notermans, Nicolette C.;
- Faber, Catharina G.;
- G.M. Verschuuren, Jan J.;
- Kruijshaar, Michelle E.;
- J. Reuser, Arnold J.;
- van Doorn, Pieter A.;
- van der Pleog, Ans T.
Publication type:
Article
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 35, doi. 10.1186/1750-1172-7-35
By:
- Herzog, Andreas;
- Hartung, Ralf;
- Reuser, Arnold J. J.;
- Hermanns, Pia;
- Runz, Heiko;
- Karabul, Nesrin;
- G�kce, Seyfullah;
- Pohlenz, Joachim;
- Kampmann, Christoph;
- Lampe, Christina;
- Beck, Michael;
- Mengel, Eugen
Publication type:
Article
Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy.
Published in:
2011
By:
- Güngör, Deniz;
- de Vries, Juna M;
- Hop, Wim C J;
- Reuser, Arnold J J;
- van Doorn, Pieter A;
- van der Ploeg, Ans T;
- Hagemans, Marloes L C
Publication type:
journal article
Structural modeling of mutant α-glucosidases resulting in a processing/transport defect in Pompe disease.
Published in:
Journal of Human Genetics, 2009, v. 54, n. 6, p. 324, doi. 10.1038/jhg.2009.32
By:
- Sugawara, Kanako;
- Saito, Seiji;
- Sekijima, Masakazu;
- Ohno, Kazuki;
- Tajima, Youichi;
- Kroos, Marian A.;
- Reuser, Arnold J. J.;
- Sakuraba, Hitoshi
Publication type:
Article
Pathological features of glycogen storage disease type II highlighted in the knockout mouse model.
Published in:
Journal of Pathology, 1999, v. 189, n. 3, p. 416, doi. 10.1002/(SICI)1096-9896(199911)189:3<416::AID-PATH445>3.0.CO;2-6
By:
- Bijvoet, Agnes G. A.;
- Van Hirtum, Hans;
- Vermey, Marcel;
- Van Leenen, Dik;
- Van der Ploeg, Ans T.;
- Mooi, Wolter J.;
- Reuser, Arnold J. J.
Publication type:
Article
A Nonsense Mutation in the Acid α-Glucosidase Gene Causes Pompe Disease in Finnish and Swedish Lapphunds.
Published in:
PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056825
By:
- Seppälä, Eija H.;
- Reuser, Arnold J. J.;
- Lohi, Hannes
Publication type:
Article
Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease.
Published in:
Muscle & Nerve, 2008, v. 37, n. 2, p. 251, doi. 10.1002/mus.20896
By:
- Drost, Maarten R.;
- Schaart, Gert;
- van Dijk, Paul;
- van Capelle, Carine I.;
- van Der Vusse, Ger J.;
- Delhaas, Tammo;
- van Der Ploeg, Ans T.;
- Reuser, Arnold J. J.
Publication type:
Article
Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy.
Published in:
Muscle & Nerve, 2003, v. 27, n. 6, p. 743, doi. 10.1002/mus.10381
By:
- Léon P. F. Winkel;
- Joep H. J. Kamphoven;
- Hannerieke J. M. P. Van Den Hout;
- Lies A. Severijnen;
- Pieter A. Van Doorn;
- Arnold J. J. Reuser;
- Ans T. Van Der Ploeg
Publication type:
Article
The natural course of non–classic Pompe’s disease; a review of 225 published cases.
Published in:
Journal of Neurology, 2005, v. 252, n. 8, p. 875, doi. 10.1007/s00415-005-0922-9
By:
- Winkel, Léon P. F.;
- Hagemans, Marloes L. C.;
- van Doorn, Pieter A.;
- Loonen, M. Christa B.;
- Hop, Wim J. C.;
- Reuser, Arnold J. J.;
- van der Ploeg, Ans T.
Publication type:
Article
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 8, p. 875, doi. 10.1038/ejhg.2008.34
By:
- Kroos, Marian A;
- Mullaart, Reinier A;
- Van Vliet, Laura;
- Pomponio, Robert J;
- Amartino, Hernan;
- Kolodny, Edwin H;
- Pastores, Gregory M;
- Wevers, Ron A;
- Van der Ploeg, Ans T;
- Halley, Dicky J J;
- Reuser, Arnold J J
Publication type:
Article
Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 11, p. 823, doi. 10.1038/sj.ejhg.5200728
By:
- Goedbloed, Miriam A;
- Nellist, Mark;
- Verhaaf, Brenda;
- Reuser, Arnold J J;
- Lindhout, Dick;
- Sunde, Lone;
- Verhoef, Senno;
- Halley, Dicky J J;
- van den Ouweland, Ans M W
Publication type:
Article
Rapid Ultraperformance Liquid Chromatography--Tandem Mass Spectrometry Assay for a Characteristic Glycogen-Derived Tetrasaccharide in Pompe Disease and Other Glycogen Storage Diseases.
Published in:
Clinical Chemistry, 2012, v. 58, n. 7, p. 1139, doi. 10.1373/clinchem.2011.178319
By:
- Sluiter, Wim;
- van den Bosch, Jeroen C.;
- Goudriaan, Daphne A.;
- van Gelder, Carin M.;
- de Vries, Juna M.;
- Huijmans, Jan G. M.;
- Reuser, Arnold J. J.;
- van der Ploeg, Ans T.;
- Ruijter, George J. G.
Publication type:
Article
Enzyme replacement therapy in late‐onset Pompe's disease: A three‐year follow‐up.
Published in:
Annals of Neurology, 2004, v. 55, n. 4, p. 495
By:
- Léon P. F. Winkel;
- Johanna M. P. Van den Hout;
- Joep H. J. Kamphoven;
- Janus A. M. Disseldorp;
- Maaike Remmerswaal;
- Willem F. M. Arts;
- M. Christa B. Loonen;
- Arnold G. Vulto;
- Pieter A. Van Doorn;
- Gerard De Jong;
- Wim Hop;
- G. Peter A. Smit;
- Stuart K. Shapira;
- Marijke A. Boer;
- Arnold J. J. Reuser;
- Ans T. Van der Ploeg;
- Otto P. van Diggelen
Publication type:
Article
Front Cover, Volume 40, Issue 11.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. i, doi. 10.1002/humu.23934
By:
- Reuser, Arnold J. J.;
- Ploeg, Ans T.;
- Chien, Yin‐Hsiu;
- Llerena, Juan;
- Abbott, Mary‐Alice;
- Clemens, Paula R.;
- Kimonis, Virginia E.;
- Leslie, Nancy;
- Maruti, Sonia S.;
- Sanson, Bernd‐Jan;
- Araujo, Roberto;
- Periquet, Magali;
- Toscano, Antonio;
- Kishnani, Priya S.;
- on behalf of the Pompe Registry Sites
Publication type:
Article
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2146, doi. 10.1002/humu.23878
By:
- Reuser, Arnold J. J.;
- Ploeg, Ans T.;
- Chien, Yin‐Hsiu;
- Llerena, Juan;
- Abbott, Mary‐Alice;
- Clemens, Paula R.;
- Kimonis, Virginia E.;
- Leslie, Nancy;
- Maruti, Sonia S.;
- Sanson, Bernd‐Jan;
- Araujo, Roberto;
- Periquet, Magali;
- Toscano, Antonio;
- Kishnani, Priya S.;
- on behalf of the Pompe Registry Sites
Publication type:
Article
Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 12, p. 2145, doi. 10.1093/hmg/8.12.2145
By:
- Bijvoet, Agnes G. A.;
- Van Hirtum, Hans;
- Kroos, Marian A.;
- Van de Kamp, Esther H. M.;
- Schoneveld, Onard;
- Visser, Pim;
- Brakenhoff, Just P. J.;
- Weggeman, Miranda;
- van Corven, Emile J.;
- Van der Ploeg, Ans T.;
- Reuser, Arnold J. J.
Publication type:
Article
Genotype-phenotype correlation in adult-onset acid maltase deficiency.
Published in:
Annals of Neurology, 1995, v. 38, n. 3, p. 450, doi. 10.1002/ana.410380316
By:
- Wokke, John H. J.;
- Ausems, Margreet G. E. M.;
- van den Boogaard, Marie-José H.;
- Ippel, Elly F.;
- van Diggelen, Otto;
- Kroos, Marian A.;
- Boer, Marijke;
- Jennekens, Frans G. I.;
- Reuser, Arnold J. J.;
- van Amstel, Hans Kristian Ploos
Publication type:
Article
Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
Published in:
Human Mutation, 1998, v. 11, n. 3, p. 209, doi. 10.1002/(SICI)1098-1004(1998)11:3<209::AID-HUMU5>3.0.CO;2-C
By:
- Hermans, Monique M. P.;
- Kroos, Marian A.;
- Smeitink, Jan A. M.;
- van der Ploeg, Ans T.;
- Kleijer, Wim J.;
- Reuser, Arnold J. J.
Publication type:
Article
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: A matter of genotype.
Published in:
Human Mutation, 1997, v. 9, n. 1, p. 17, doi. 10.1002/(SICI)1098-1004(1997)9:1<17::AID-HUMU3>3.0.CO;2-M
By:
- Kroos, Marian A.;
- Van der Kraan, Magna;
- Van Diggelen, Otto P.;
- Kleijer, Wim J.;
- Reuser, Arnold J. J.
Publication type:
Article
Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II.
Published in:
Human Mutation, 1993, v. 2, n. 4, p. 268, doi. 10.1002/humu.1380020406
By:
- Hermans, Monique M. P.;
- Kroos, Marian A.;
- De Graaff, Esther;
- Oostra, Ben A.;
- Reuser, Arnold J. J.
Publication type:
Article
Recombinant human acid α-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 11, p. 1815, doi. 10.1093/hmg/7.11.1815
By:
- Bijvoet, Agnes G. A.;
- Kroos, Marian A.;
- Pieper, Frank R.;
- Van der Vliet, Martin;
- De Boer, Herman A.;
- Van der Ploeg, Ans T.;
- Verbeet, Martin Ph.;
- Reuser, Arnold J. J.
Publication type:
Article
Adenovirus-mediated transfer of the acid α-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 11, p. 1695, doi. 10.1093/hmg/7.11.1695
By:
- Nicolino, Marc P.;
- Puech, Jean‐Philippe;
- Kremer, Erik J.;
- Reuser, Arnold J. J.;
- Mbebi, Corinne;
- Verdière‐Sahuqué, Martine;
- Kahn, Axel;
- Poenaru, Livia
Publication type:
Article
Km mutant of acid α-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement.
Published in:
Clinical Genetics, 1988, v. 33, n. 5, p. 376, doi. 10.1111/j.1399-0004.1988.tb03465.x
By:
- Suzuki, Yoshiyuki;
- Tsuji, Akihiko;
- Omura, Kiyoshi;
- Nakamura, Gen;
- Awa, Shoichi;
- Kroos, Marian;
- Reuser, Arnold J. J.
Publication type:
Article
Atypical expression of ß-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities.
Published in:
Clinical Genetics, 1978, v. 14, n. 1, p. 16, doi. 10.1111/j.1399-0004.1978.tb02055.x
By:
- Andria, Generoso;
- Giudice, Ennio Del;
- Reuser, Arnold J. J.
Publication type:
Article
Isolation and Structural Characterization of Twenty-One Sialyloligosaccharides from Galactosialidosis Urine.
Published in:
Biological Chemistry, 1989, v. 370, n. 1, p. 191, doi. 10.1515/bchm3.1989.370.1.191
By:
- VAN PELT, Johannes;
- HARD, Karl;
- KAMERLING, Johannis P.;
- VLIEGENTHART, Johannes F. G.;
- REUSER, Arnold J. J.;
- GALJAARD, Hans
Publication type:
Article

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