المؤلفون: Stok, M. (Merel), De Boer, H. (Helen), Huston, M.W. (Marshall W.), Jacobs, E.H. (Edwin H.), Roovers, O. (Onno), Visser, T.P. (Trudi), Jahr, H. (Holger), Duncker, D.J.G.M. (Dirk), Deel, E.D. (Elza) van, Reuser, A.J.J. (Arnold), Til, N.P. (Niek) van, Wagemaker, G. (Gerard)

المصدر: Molecular Therapy - Methods and Clinical Development vol. 17, pp. 1014-1025

مصطلحات موضوعية: acid α-glucosidase, central nervous system, hematopoietic stem cell transplantation, lentiviral vector, murine Pompe disease, skeletal muscle

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/127067; urn:hdl:1765/127067

الاتاحة: http://repub.eur.nl/pub/127067
https://doi.org/10.1016/j.omtm.2020.04.023

المؤلفون: Reuser, A.J.J. (Arnold), Ploeg, A.T. (Ans) van der, Chien, Y.H., Llerena, J. (Juan), Abbott, M.-A. (Mary-Alice), Clemens, P.R. (Paula ), Kimonis, V. (Virginia), Leslie, N., Maruti, S.S. (Sonia S.), Sanson, B.-J. (Bernd-Jan), Araujo, R. (Roberto), Periquet, M. (Magali), Toscano, A. (Antonio), Kishnani, P.

المصدر: Human Mutation

مصطلحات موضوعية: acid α-glucosidase, GAA genotypes, GAA variants, Pompe disease, Pompe Registry

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/119026; urn:hdl:1765/119026

الاتاحة: http://repub.eur.nl/pub/119026
https://doi.org/10.1002/humu.23878

المؤلفون: Güngör, D. (Deniz), Kruijshaar, M.E. (Michelle), Plug, I. (Iris), Rizopoulos, D. (Dimitris), Kanters, T.A. (Tim), Wens, S.C.A. (Stephan), Reuser, A.J.J. (Arnold), Doorn, P.A. (Pieter) van, Ploeg, A.T. (Ans) van der

المصدر: Journal of Inherited Metabolic Disease vol. 39 no. 2, pp. 253-260

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/FP7/201678; info:eu-repo/grantAgreement/EC/FP7/304999; http://repub.eur.nl/pub/83220; urn:hdl:1765/83220

الاتاحة: http://repub.eur.nl/pub/83220
https://doi.org/10.1007/s10545-015-9889-6

المؤلفون: Van Gelder, C.M. (Carin), Poelman, E. (Esther), Plug, I. (Iris), Hoogeveen-Westerveld, M. (Marianne), Beek, N.A.M.E. (Nadine) van der, Reuser, A.J.J. (Arnold), Ploeg, A.T. (Ans) van der

المصدر: Journal of Inherited Metabolic Disease vol. 39 no. 3, pp. 383-390

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/89594; urn:hdl:1765/89594

الاتاحة: http://repub.eur.nl/pub/89594
https://doi.org/10.1007/s10545-015-9912-y

المؤلفون: Capelle, C.I. (Carine) van, Meijden, J.C. (Chris) van der, Hout, J.M.P. (Johanna) van den, Jaeken, J., Baethmann, M., Voit, T., Kroos, M.A. (Marian), Derks, T.G.J. (Terry G J), Rubio-Gozalbo, M.E. (Estela), Willemsen, M.A. (Michél), Lachmann, R. (Robin), Mengel, E., Michelakakis, H. (Helen), Jongste, J.C. (Johan) de, Reuser, A.J.J. (Arnold), Ploeg, A.T. (Ans) van der

المصدر: Orphanet journal of rare diseases vol. 11 no. 1

مصطلحات موضوعية: Childhood, Clinical spectrum, Genotype, Natural course, Pompe disease

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/FP7/201678; info:eu-repo/grantAgreement/EC/FP7/304999; http://repub.eur.nl/pub/90975; urn:hdl:1765/90975

الاتاحة: http://repub.eur.nl/pub/90975
https://doi.org/10.1186/s13023-016-0442-y

المؤلفون: Berg, L.E.M. (Linda) van den, Favejee, M.M. (Marein), Wens, S.C.A. (Stephan), Kruijshaar, M.E. (Michelle), Praet, S.F.E. (Stephan), Reuser, A.J.J. (Arnold), Bussmann, J.B.J. (Hans), Doorn, P.A. (Pieter) van, Ploeg, A.T. (Ans) van der

المصدر: Orphanet journal of rare diseases vol. 10 no. 1

مصطلحات موضوعية: Core stability, Endurance training, Glycogen storage disorder type II, Muscle function, Strength training

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/82099; urn:hdl:1765/82099

الاتاحة: http://repub.eur.nl/pub/82099
https://doi.org/10.1186/s13023-015-0303-0

المؤلفون: Ausems, M.G.E.M., Berg, K. ten, Kroos, M.A., van Diggelen, O.P., Wevers, R.A., Poorthuis, B.J.H.M., Niezen-Koning, K.E., van der Ploeg, A.T., Beemer, F.A., Reuser, A.J.J., Sandkuijl, L.A., Wokke, J.H.J.

المصدر: Community Genetics, 1999 Jan 01. 2(2/3), 91-96.

URL الوصول: https://www.jstor.org/stable/26664451

المؤلفون: Van Gelder, C.M. (Carin), Hoogeveen-Westerveld, M. (Marianne), Kroos, M.A. (Marian), Plug, I. (Iris), Ploeg, A.T. (Ans) van der, Reuser, A.J.J. (Arnold)

المصدر: Journal of Inherited Metabolic Disease

Relation: http://repub.eur.nl/pub/56163; urn:hdl:1765/56163

الاتاحة: http://repub.eur.nl/pub/56163
https://doi.org/10.1007/s10545-014-9707-6

المؤلفون: El, C.G. (Carla), Rigter, T. (Tessel), Reuser, A.J.J. (Arnold), Ploeg, A.T. (Ans) van der, Weinreich, S.S. (Stephanie S.), Cornel, M.C. (Martina)

المصدر: B M C Pediatrics vol. 14 no. 1

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/81739; urn:hdl:1765/81739

الاتاحة: http://repub.eur.nl/pub/81739
https://doi.org/10.1186/1471-2431-14-203

المؤلفون: Wens, S.C.A. (Stephan), Van Gelder, C.M. (Carin), Kruijshaar, M.E. (Michelle), Vries, J.M. (Juna) de, Beek, N.A.M.E. (Nadine) van der, Reuser, A.J.J. (Arnold), Doorn, P.A. (Pieter) van, Ploeg, A.T. (Ans) van der, Brusse, E. (Esther)

المصدر: Orphanet Journal of Rare Diseases vol. 8 no. 1

مصطلحات موضوعية: Acid α-glucosidase, Families, Glycogen storage disease type II, Lysosomal storage disorder, Phenotype, Pompe disease, Siblings

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/65603; urn:hdl:1765/65603

الاتاحة: http://repub.eur.nl/pub/65603
https://doi.org/10.1186/1750-1172-8-182

المؤلفون: Brands, M.M.M.G. (Marion), Hoogeveen-Westerveld, M. (Marianne), Kroos, M.A. (Marian), Nobel, W. (Willemieke), Ruijter, G.J.G. (George), Ozkan, L. (Lale), Plug, I. (Iris), Grinberg, D. (Daniel), Vilageliu, L. (Lluïsa), Halley, D.J.J. (Dicky), Ploeg, A.T. (Ans) van der, Reuser, A.J.J. (Arnold)

المصدر: Orphanet Journal of Rare Diseases vol. 8 no. 1, pp. 1-10

مصطلحات موضوعية: Maroteaux Lamy syndrome, adult, antibody response, article, child, clinical article, disease severity, drug uptake, enzyme linked immunosorbent assay, gene mutation, genetic association, genotype, human, immunoprecipitation, in vitro study, mutagenesis, phenotype, preschool child, school child, treatment outcome

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/40880; urn:hdl:1765/40880

الاتاحة: http://repub.eur.nl/pub/40880
https://doi.org/10.1186/1750-1172-8-51

المؤلفون: Güngör, D. (Deniz), Kruijshaar, M.E. (Michelle), Plug, I. (Iris), D'Agostino, R.B. (Ralph), Hagemans, M.L.C. (Marloes), Doorn, P.A. (Pieter) van, Reuser, A.J.J. (Arnold), Ploeg, A.T. (Ans) van der

المصدر: Orphanet Journal of Rare Diseases vol. 8 no. 1

مصطلحات موضوعية: Acid maltase deficiency, Alglucosidase alfa, Enzyme replacement therapy, Glycogen storage disease type II, Lysosomal storage disease, Pompe disease, Survival

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/70266; urn:hdl:1765/70266

الاتاحة: http://repub.eur.nl/pub/70266
https://doi.org/10.1186/1750-1172-8-49

المؤلفون: Seppälä, E.H. (Eija), Reuser, A.J.J. (Arnold), Lohi, H. (Hannes)

المصدر: PLoS ONE vol. 8 no. 2

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/71231; urn:hdl:1765/71231

الاتاحة: http://repub.eur.nl/pub/71231
https://doi.org/10.1371/journal.pone.0056825

المؤلفون: Weinreich, S.S. (Stephanie ), Rigter, T. (Tessel), El, C.G. (Carla), Dondorp, W.J. (Wybo Jan), Kostense, P.J. (Piet), Ploeg, A.T. (Ans) van der, Reuser, A.J.J. (Arnold), Cornel, M.C. (Martina), Hagemans, M.L.C. (Marloes)

المصدر: Orphanet Journal of Rare Diseases vol. 7 no. 1

مصطلحات موضوعية: Biomedical, Consumer participation, Glycogen storage disease type II, Health policy, Neonatal screening, Technology assessment

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/69331; urn:hdl:1765/69331

الاتاحة: http://repub.eur.nl/pub/69331
https://doi.org/10.1186/1750-1172-7-15

المؤلفون: Vries, J.M. (Juna) de, Beek, N.A.M.E. (Nadine) van der, Hop, W.C.J. (Wim), Karstens, F.P.J. (François), Wokke, J.H.J. (John), Visser, M. (Marianne) de, Engelen, B.G.M. (Baziel) van, Kuks, J.B.M. (Jan), Kooj, A.J. (Anneke), Notermans, N.C. (Nicolette), Faber, C.G. (Carin), Verschuuren, J.J. (Jan), Kruijshaar, M.E. (Michelle), Reuser, A.J.J. (Arnold), Doorn, P.A. (Pieter) van, Ploeg, A.T. (Ans) van der

المصدر: Orphanet Journal of Rare Diseases vol. 7 no. 1

مصطلحات موضوعية: Acid -glucosidase, Alglucosidase alfa, Enzyme replacement therapy, Glycogen storage disease type II, Lung function, Lysosomal storage disorder, Muscle strength, OMIM number 232300, Pompe disease

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/38660; urn:hdl:1765/38660

الاتاحة: http://repub.eur.nl/pub/38660
https://doi.org/10.1186/1750-1172-7-73

المؤلفون: Beek, N.A.M.E. (Nadine) van der, Vries, J.M. (Juna) de, Hagemans, M.L.C. (Marloes), Hop, W.C.J. (Wim), Kroos, M.A. (Marian), Wokke, J.H.J. (John), Visser, M. (Marianne) de, Engelen, B.G.M. (Baziel) van, Kuks, J.B.M. (Jan), Kooj, A.J. (Anneke), Notermans, N.C. (Nicolette), Faber, K.G. (Karin), Verschuuren, J.J. (Jan), Reuser, A.J.J. (Arnold), Ploeg, A.T. (Ans) van der, Doorn, P.A. (Pieter) van

المصدر: Orphanet Journal of Rare Diseases vol. 7 no. 1

مصطلحات موضوعية: Acid α-glucosidase, Disease progression, Glycogen storage disease type II, Lysosomal storage disorder, Natural course, OMIM number 232300, Prognostic factors

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/62486; urn:hdl:1765/62486

الاتاحة: http://repub.eur.nl/pub/62486
https://doi.org/10.1186/1750-1172-7-88

المؤلفون: Sluiter, W.J. (Wim), Bosch, J.C. (Jeroen) van den, Goudriaan, D.A. (Daphne), Van Gelder, C.M. (Carin), Vries, J.M. (Juna) de, Huijmans, J.G.M. (Jan), Reuser, A.J.J. (Arnold), Ploeg, A.T. (Ans) van der, Ruijter, G.J.G. (George)

المصدر: Clinical Chemistry vol. 58 no. 7, pp. 1139-1147

Relation: http://repub.eur.nl/pub/66278; urn:hdl:1765/66278

الاتاحة: http://repub.eur.nl/pub/66278
https://doi.org/10.1373/clinchem.2011.178319

المؤلفون: Van Gelder, C.M. (Carin), Capelle, C.I. (Carine) van, Ebbink, B.J. (Johanneke), Moor-van Nugteren, I., Hout, J.M.P. (Johanna) van den, Hakkesteegt, M.M. (Marieke), Doorn, P.A. (Pieter) van, Coo, I.F.M. (René) de, Reuser, A.J.J. (Arnold), Gier, H.H.W. (Henriette) de, Ploeg, A.T. (Ans) van der

المصدر: Journal of Inherited Metabolic Disease, pp. 1-7

Relation: http://repub.eur.nl/pub/33610; urn:hdl:1765/33610

الاتاحة: http://repub.eur.nl/pub/33610
https://doi.org/10.1007/s10545-011-9404-7

المؤلفون: Beek, N.A.M.E. (Nadine) van der, Verschuure, H. (Hans), Reuser, A.J.J. (Arnold), Ploeg, A.T. (Ans) van der, Doorn, P.A. (Pieter) van, Poublon, R.M.L. (René)

المصدر: Journal of Inherited Metabolic Disease, pp. 1-7

Relation: http://repub.eur.nl/pub/33611; urn:hdl:1765/33611

الاتاحة: http://repub.eur.nl/pub/33611
https://doi.org/10.1007/s10545-011-9396-3

المؤلفون: Herzog, A. (Andre), Hartung, R. (Ralf), Reuser, A.J.J. (Arnold), Hermanns, T. (Thomas), Runz, H. (Heiko), Karabul, N., Gökce, S. (Seyfullah), Pohlenz, J. (Joachim), Kampmann, C. (Christoph), Lampe, C. (Christina), Beck, M. (Markus), Mengel, E.

المصدر: Orphanet Journal of Rare Diseases vol. 7 no. 1

مصطلحات موضوعية: Enzyme replacement therapy, GAA, Genotype phenotype correlations, Glycogen storage disease type II, Lysosomal storage diseases, Pompe disease

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/66595; urn:hdl:1765/66595

الاتاحة: http://repub.eur.nl/pub/66595
https://doi.org/10.1186/1750-1172-7-35