Reuser, A. J. J. : rechercher sur Z-Library

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1

Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease

Maarten R. Drost, Gert Schaart, Paul van Dijk, Carine I. van Capelle, Ger J. van Der Vusse, Tammo Delhaas, Ans T. van Der Ploeg, Arnold J. J. Reuser

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 204 KB

english, 2008

2

Glycogenosis type II (acid maltase deficiency)

Dr. A. J. J. Reuser, Dr. M. A. Kroos, Dr. M. M. P. Hermans, Dr. A. G. A. Bijvoet, Dr. M. P. Verbeet, Dr. O. P. Van Diggelen, Dr. W. J. Kleijer, Dr. A. T. Van Der Ploeg

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 826 KB

english, 1995

3

Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

Monique M. P. Hermans, Marian A. Kroos, Jan A. M. Smeitink, Ans T. van der Ploeg, Wim J. Kleijer, Arnold J. J. Reuser

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 192 KB

english, 1998

4

Genotype-phenotype correlation in adult-onset acid maltase deficiency

Dr John H. J. Wokke, Margreet G. E. M. Ausems, Marie-José H. van den Boogaard, Elly F. Ippel, Otto van Diggelen, Marian A. Kroos, Marijke Boer, Frans G. I. Jennekens, Arnold J. J. Reuser, Hans Kristia

Journal:

Annals of Neurology

Année:

1995

Langue:

english

Fichier:

PDF, 508 KB

english, 1995

5

Impaired performance of skeletal muscle in α-glucosidase knockout mice

Reinout P. Hesselink, Marchel Gorselink, Gert Schaart, Anton J.M. Wagenmakers, Joep Kamphoven, Arnold J.J. Reuser, Ger J. Van der Vusse, Maarten R. Drost

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 2.97 MB

english, 2002

6

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy

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

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 621 KB

english, 2003

7

Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy

Deniz Güngör, Juna M de Vries, Wim CJ Hop, Arnold JJ Reuser, Pieter A van Doorn, Ans T van der Ploeg, Marloes LC Hagemans

Journal:

Orphanet Journal of Rare Diseases

Année:

2011

Langue:

english

Fichier:

PDF, 350 KB

english, 2011

8

Fatigue: an important feature of late-onset Pompe disease

M. L. C. Hagemans, S. P. M. van Schie, A. C. J. W. Janssens, P. A. van Doorn, A. J. J. Reuser, A. T. van der Ploeg

Journal:

Journal of Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 1.32 MB

english, 2007

9

Seven cases of Pompe disease from Greece

M. Kroos, P. Manta, I. Mavridou, F. Muntoni, D. Halley, R. Van der Helm, D. Zaifeiriou, A. Van der Ploeg, A. Reuser, H. Michelakakis

Journal:

Journal of Inherited Metabolic Disease

Année:

2006

Langue:

english

Fichier:

PDF, 354 KB

english, 2006

10

Hearing in adults with Pompe disease

Nadine A. M. E. van der Beek, Hans Verschuure, Arnold J. J. Reuser, Ans T. van der Ploeg, Pieter A. van Doorn, René M. L. Poublon

Journal:

Journal of Inherited Metabolic Disease

Année:

2012

Langue:

english

Fichier:

PDF, 882 KB

english, 2012

11

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Marian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, Robert Pomponio, Ans Van der Ploeg, Dicky Halley, Arnold Reuser, GAA Database Consortium:, Persephone Augoustides-Savvopoulou, Margreet

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 148 KB

english, 2012

12

Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation

O.P. van Diggelen, J. Zaremba, Wang He, J. L. M. Keulemans, A. M. Boer, A. J. J. Reuser, M. G. E. M. Ausems, J. A. M. Smeitink, J. Kowalczyk, E. Pronicka, D. Rokicki, E. Tarnowska-Dziduszko, A. L. J.

Journal:

Clinical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 751 KB

english, 1996

13

Uptake and stability of human and bovine acid α-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patients

A.J.J. Reuser, M.A. Kroos, N.J. Ponne, R.A. Wolterman, M.C.B. Loonen, H.F.M. Busch, W.J. Visser, P.A. Bolhuis

Journal:

Experimental Cell Research

Année:

1984

Langue:

english

Fichier:

PDF, 2.93 MB

english, 1984

14

Public support for neonatal screening for Pompe disease, a broad-phenotype condition

Stephanie Shifra Weinreich, Tessel Rigter, Carla Geertruida van El, Wybo Jan Dondorp, Pieter Johannes Kostense, Ans T van der Ploeg, Arnold JJ Reuser, Martina Cornelia Cornel, Marloes Louise Catharina

Journal:

Orphanet Journal of Rare Diseases

Année:

2012

Langue:

english

Fichier:

PDF, 265 KB

english, 2012

15

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

Andreas Herzog, Ralf Hartung, Arnold J J Reuser, Pia Hermanns, Heiko Runz, Nesrin Karabul, Seyfullah Gökce, Joachim Pohlenz, Christoph Kampmann, Christina Lampe, Michael Beck, Eugen Mengel

Journal:

Orphanet Journal of Rare Diseases

Année:

2012

Langue:

english

Fichier:

PDF, 412 KB

english, 2012

16

Treatment options for lysosomal storage disorders: developing insights

van Gelder, Carin M, Vollebregt, Audrey AM, Plug, Iris, van der Ploeg, Ans T, Reuser, Arnold JJ

Journal:

Expert Opinion on Pharmacotherapy

Année:

2012

Langue:

english

Fichier:

PDF, 536 KB

english, 2012

17

Future therapeutic options

Journal:

BMC Musculoskeletal Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 72 KB

english, 2013

18

Antibody formation to enzyme therapy in classic infantile Pompe disease: implications of patient age

C van Gelder, M Kroos, L Özkan, I Plug, A Reuser…

Journal:

BMC Musculoskeletal Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 72 KB

english, 2013

19

A higher dose of enzyme therapy in patients with classic infantile Pompe disease seems to improve ventilator-free survival and motor function

C van Gelder, I Plug, M Kroos, A Reuser, A van der Ploeg

Journal:

BMC Musculoskeletal Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 73 KB

english, 2013

20

Genotype-phenotype: correlations and emerging spectrum

Journal:

BMC Musculoskeletal Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 73 KB

english, 2013

21

[Lecture Notes in Social Networks] The Influence of Technology on Social Network Analysis and Mining Volume 6 ||

Özyer, Tansel, Rokne, Jon, Wagner, Gerhard, Reuser, Arno H.P.

Année:

2013

Langue:

english

Fichier:

PDF, 14.27 MB

english, 2013

22

Phenotypical variation within 22 families with Pompe disease

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

Journal:

Orphanet Journal of Rare Diseases

Année:

2013

Langue:

english

Fichier:

PDF, 190 KB

english, 2013

23

Contents

Nilsson, M.I., Kroos, M.A., Reuser, A.J., Hatcher, E., Akhtar, M., McCready, M.E., Tarnopolsky, M.A.

Journal:

Orthopedic Clinics of North America

Année:

2009

Langue:

english

Fichier:

PDF, 74 KB

english, 2009

24

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

van Gelder, Carin M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Plug, Iris, van der Ploeg, Ans T., Reuser, Arnold J. J.

Journal:

Journal of Inherited Metabolic Disease

Année:

2015

Langue:

english

Fichier:

PDF, 405 KB

english, 2015

25

Minimally invasive rapid palatal expansion with an implant-supported hyrax screw / Minimalinvasive forcierte Gaumennahterweiterung mit einer implantatgetragenen Hyraxschraube

Harzer, Winfried, Reußer, Lars, Hansen, Lars, Richter, Rene, Nagel, Thomas, Tausche, Eve

Journal:

Biomedical Engineering/ Biomedizinische Technik

Année:

2010

Langue:

english

Fichier:

PDF, 265 KB

english, 2010

26

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

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,

Journal:

Orphanet Journal of Rare Diseases

Année:

2015

Langue:

english

Fichier:

PDF, 714 KB

english, 2015

27

Endurance Exercise-induced Cardiac Troponin Elevations In Clinical Populations.

Eijsvogels, Thijs M., Reuser, Anke M., George, Keith P., Thompson, Paul D., Hopman, Maria T., Thijssen, Dick H.

Journal:

Medicine & Science in Sports & Exercise

Année:

2015

Langue:

english

Fichier:

PDF, 283 KB

english, 2015

28

Pathological features of glycogen storage disease type II highlighted in the knockout mouse model

Bijvoet, Agnes G. A., Van Hirtum, Hans, Vermey, Marcel, Van Leenen, Dik, Van der Ploeg, Ans T., Mooi, Wolter J., Reuser, Arnold J. J.

Journal:

The Journal of Pathology

Année:

1999

Langue:

english

Fichier:

PDF, 794 KB

english, 1999

29

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: A matter of genotype

Marian A. Kroos, Magna Van der Kraan, Otto P. Van Diggelen, Wim J. Kleijer, Arnold J. J. Reuser

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 158 KB

english, 1997

30

Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid α-glucosidase deficiency)

Dr. Hendrik C. Walvoort, Regina G. Slee, Koos J. Sluis, Johan F. Koster, Arnold J. J. Reuser

Journal:

American Journal of Medical Genetics Part A

Année:

1984

Langue:

english

Fichier:

PDF, 631 KB

english, 1984

31

The genotype–phenotype correlation in Pompe disease

Marian Kroos, Marianne Hoogeveen-Westerveld, Ans van der Ploeg, Arnold J.J. Reuser

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 282 KB

english, 2012

32

Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II

Monique M. P. Hermans, Marian A. Kroos, Esther De Graaff, Ben A. Oostra, Arnold J. J. Reuser

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 503 KB

english, 1993

33

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease

MG Pittis, M Donnarumma, ALE Montalvo, S Dominissini, M Kroos, C Rosano, M Stroppiano, MG Bianco, MA Donati, G Parenti, A D'Amico, G Ciana, M Di Rocco, A Reuser, B Bembi, M Filocamo

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 216 KB

english, 2008

34

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

Marian Kroos, Robert J. Pomponio, Laura van Vliet, Rachel E. Palmer, Michael Phipps, Robert Van der Helm, Dicky Halley, Arnold Reuser

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 206 KB

english, 2008

35

Design and validation of a metabolic disorder resequencing microarray (BRUM1)

Christopher K. Bruce, Matthew Smith, Fatima Rahman, Zhi-feng Liu, Dominic J. McMullan, Sarah Ball, Jane Hartley, Marian A. Kroos, Lesley Heptinstall, Arnold J.J. Reuser, Arndt Rolfs, Chris Hendriksz,

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 169 KB

english, 2010

36

The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts and in fibroblasts from control individuals

J.M. van Dongen, R. Willemsen, W.J. Visser, A.T. Hoogeveen, H.J. Sips, J.A. Barranger, J.M. Tager, A.J.J. Reuser, H. Galjaard

Journal:

Ultramicroscopy

Année:

1986

Langue:

english

Fichier:

PDF, 90 KB

english, 1986

37

Immunoelectron microscopical localization of lysosomal hydrolases in normal and I-cell fibroblasts

J.M. Van Dongen, A.T. Hoogeveen, A.J.J. Reuser, R. Willemsen

Journal:

Ultramicroscopy

Année:

1987

Langue:

english

Fichier:

PDF, 208 KB

english, 1987

38

Common pathways for cellular transport of steroid sulfatase, lysosomal enzymes and the mannose 6-phosphate receptor: An immunocytochemical appraisal

Rob Willemsen, Marian Kroos, AndréT. Hoogeveen, JohanM. van Dongen, ArnoldJ.J. Reuser

Journal:

Ultramicroscopy

Année:

1987

Langue:

english

Fichier:

PDF, 104 KB

english, 1987

39

An immunoelectron microscopic study of gluccereberosidase in type I Gaucher's disease spleen

R. Willemsen, J.M.F.G. Aerts, J.M. van Dongen, R. Goudsmit, A.W. Schram, J.M. Tager, A.J.J. Reuser

Journal:

Ultramicroscopy

Année:

1988

Langue:

english

Fichier:

PDF, 103 KB

english, 1988

40

A biochemical and immunocytochemical study on the targeting of alglucerase in murine liver

R. Willemsen, J. J. M. Tibbe, M. A. Kroos, B. M. Martin, A. J. J. Reuser, E. I. Ginns

Journal:

Journal of Molecular Histology

Année:

1995

Langue:

english

Fichier:

PDF, 917 KB

english, 1995

41

A two-year-old patient with an atypical expression of GM1-β-galactosidase deficiency: Biochemical, immunological, and cell genetic studies

A. J. J. Reuser, G. Andria, E. Wit-Verbeek, A. Hoogeveen, E. Giudice, D. Halley

Journal:

Année:

1979

Langue:

english

Fichier:

PDF, 473 KB

english, 1979

42

Assignment of the gene coding for human β-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies

R. A. Barneveld, W. Keiizer, F. P. W. Tegelaers, E. I. Ginns, A. Geurts Kessel, R. O. Brady, J. A. Barranger, J. M. Tager, H. Galjaard, A. Westerveld, A. J. J. Reuser

Journal:

Année:

1983

Langue:

english

Fichier:

PDF, 488 KB

english, 1983

43

Characterization of residual hexosaminidase activity in Sandhoff's disease using man-Chinese hamster cell hybrids

H. L. Hoeksema, A. J. J. Reuser, A. T. Hoogeveen, A. Westerveld, H. Galjaard

Journal:

Année:

1977

Langue:

english

Fichier:

PDF, 400 KB

english, 1977

44

Cotransfer of syntenic human genes into mouse cells using isolated metaphase chromosomes or cellular DNA

A. J. R. Jonge, S. Smit, M. A. Kroos, A. J. J. Reuser

Journal:

Année:

1985

Langue:

english

Fichier:

PDF, 790 KB

english, 1985

45

Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry

R. Willemsen, J. M. Dongen, E. I. Ginns, H. J. Sips, A. W. Schram, J. M. Tager, J. A. Barranger, A. J. J. Reuser

Journal:

Journal of Neurology

Année:

1987

Langue:

english

Fichier:

PDF, 3.72 MB

english, 1987

46

Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells

A. T. Ploeg, P. A. Bolhuis, R. A. Wolterman, J. W. Visser, M. C. B. Loonen, H. F. M. Busch, A. J. J. Reuser

Journal:

Journal of Neurology

Année:

1988

Langue:

english

Fichier:

PDF, 1009 KB

english, 1988

47

Bifunctionality and polarized infidelity at thehisBlocus ofAspergillus nidulans

A. M. Millington Ward, J. A. M. Reuser, J. Y. Scheele, E. J. Lohuizen, I. R. M. C. Gorkum van Diepen, E. A. Klasen, M. Bresser

Journal:

Molecular Genetics and Genomics

Année:

1984

Langue:

english

Fichier:

PDF, 770 KB

english, 1984

48

Genetic heterogeneity in inborn errors of metabolism studied by enzyme analysis in single somatic cell hybrids

H. Galjaard, A. Hoogeveen, H. A. De Wit-Verbeek, W. Keijzer, A. J. J. Reuser

Journal:

Journal of Molecular Histology

Année:

1975

Langue:

english

Fichier:

PDF, 196 KB

english, 1975

49

In vitrostudies on the intercellular exchange of lysosomal enzymes between normal and enzyme deficient human fibroblasts

A. J. J. Reuser, M. P. Mulder, D. Halley, H. Galjaard

Journal:

Journal of Molecular Histology

Année:

1975

Langue:

english

Fichier:

PDF, 196 KB

english, 1975

50

Monoclonal antibody to human lysosomal α-glucosidase in immunocytochemistry: unexpected reactivity with cytoskeletal structures

Herman J. Sips, Niels De Jonge, Han M. Van Dongen, Frans C. S. Ramaekers, Arnold J. J. Reuser

Journal:

Journal of Molecular Histology

Année:

1985

Langue:

english

Fichier:

PDF, 1.77 MB

english, 1985