REUSER, ARNOLD J. J.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

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:

Year:

2008

Language:

english

File:

PDF, 204 KB

english, 2008

2

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:

Year:

1998

Language:

english

File:

PDF, 192 KB

english, 1998

3

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

Year:

1995

Language:

english

File:

PDF, 508 KB

english, 1995

4

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:

Year:

2002

Language:

english

File:

PDF, 2.97 MB

english, 2002

5

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:

Year:

2003

Language:

english

File:

PDF, 621 KB

english, 2003

6

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

Year:

2011

Language:

english

File:

PDF, 350 KB

english, 2011

7

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

Year:

2012

Language:

english

File:

PDF, 882 KB

english, 2012

8

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:

Year:

2012

Language:

english

File:

PDF, 148 KB

english, 2012

9

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

Year:

2012

Language:

english

File:

PDF, 265 KB

english, 2012

10

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

Year:

2012

Language:

english

File:

PDF, 412 KB

english, 2012

11

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

Year:

2012

Language:

english

File:

PDF, 536 KB

english, 2012

12

Future therapeutic options

Journal:

BMC Musculoskeletal Disorders

Year:

2013

Language:

english

File:

PDF, 72 KB

english, 2013

13

Genotype-phenotype: correlations and emerging spectrum

Journal:

BMC Musculoskeletal Disorders

Year:

2013

Language:

english

File:

PDF, 73 KB

english, 2013

14

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

Year:

2013

Language:

english

File:

PDF, 190 KB

english, 2013

15

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

Year:

2015

Language:

english

File:

PDF, 405 KB

english, 2015

16

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

Year:

2015

Language:

english

File:

PDF, 714 KB

english, 2015

17

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

Year:

1999

Language:

english

File:

PDF, 794 KB

english, 1999

18

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:

Year:

1997

Language:

english

File:

PDF, 158 KB

english, 1997

19

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

Year:

1984

Language:

english

File:

PDF, 631 KB

english, 1984

20

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

Year:

2012

Language:

english

File:

PDF, 282 KB

english, 2012

21

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:

Year:

1993

Language:

english

File:

PDF, 503 KB

english, 1993

22

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:

Year:

2008

Language:

english

File:

PDF, 206 KB

english, 2008

23

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:

Year:

2010

Language:

english

File:

PDF, 169 KB

english, 2010

24

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

Year:

1985

Language:

english

File:

PDF, 1.77 MB

english, 1985

25

Enzyme therapy for Pompe disease: from science to industrial enterprise

Arnold J. Reuser, Hannerieke Van den Hout, Agnes G. Bijvoet, Marian A. Kroos, Martin P. Verbeet, Ans T. Van der Ploeg

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 144 KB

english, 2002

26

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease

Marloes L. C. Hagemans, Rolinda L. Stigter, Carine I. van Capelle, Nadine A. M. E. van der Beek, Leon P. F. Winkel, Laura van Vliet, Wim C. J. Hop, Arnold J. J. Reuser, Auke Beishuizen, Ans T. van der

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 168 KB

english, 2010

27

Hearing loss in Pompe disease revisited: results from a study of 24 children

Carine I. van Capelle, Andre Goedegebure, Nienke C. Homans, Hans L. J. Hoeve, Arnold J. Reuser, Ans T. van der Ploeg

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 149 KB

english, 2010

28

Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal α-glucosidase gene

Marian A Kroos, Dik van Leenen, Jan Verbiest, Arnold JJ Reuser, Monique MP Hermans

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 391 KB

english, 1998

29

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

Verheij, Coleta, Bakker, Cathy E., de Graaff, Esther, Keulemans, Joke, Willemsen, Rob, Verkerk, Annemieke J. M. H., Galjaard, Hans, Reuser, Arnold J. J., Hoogeveen, André T., Oostra, Ben A.

Journal:

Year:

1993

File:

PDF, 372 KB

1993

30

Analysis of TSC2 stop codon variants found in tuberous sclerosis patients

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

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 166 KB

english, 2001

31

Enzyme assays at the single cell level using a new type of microfluorimeter

Johan F. Jongkind, Johan S. Ploem, Arnold J. J. Reuser, Hans Galjaard

Journal:

Histochemistry and Cell Biology

Year:

1974

Language:

english

File:

PDF, 512 KB

english, 1974

32

Mouse teratocarcinoma mutant clones deficient in adenine phosphoribosyltransferase and developmentally pluripotent

Arnold J. J. Reuser, Beatrice Mintz

Journal:

Somatic Cell and Molecular Genetics

Year:

1979

Language:

english

File:

PDF, 1.35 MB

english, 1979

33

Enzyme therapy for Pompe disease: from science to industrial enterprise

Reuser, Arnold J. J., Hout, Hannerieke, Bijvoet, Agnes G. A., Kroos, Marian A., Verbeet, Martin P., Ploeg, Ans T.

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 893 KB

english, 2000

34

Expression of cDNA-encoded human acid α-glucosidase in milk of transgenic mice

Agnes G.A. Bijvoet, Marian A. Kroos, Frank R. Pieper, Herman A. de Boer, Arnold J.J. Reuser, Ans T. van der Ploeg, Martin Ph. Verbeet

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

1996

Language:

english

File:

PDF, 500 KB

english, 1996

35

Determination of the structure of the carbohydrate chains of acid α-glucosidase from human placenta

Johanna H.G.M. Mutsaers, Herman Van Halbeek, Johannes F.G. Vliegenthart, Joseph M. Tager, Arnold J.J. Reuser, Marian Kroos, Hans Galjaard

Journal:

Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology

Year:

1987

Language:

english

File:

PDF, 584 KB

english, 1987

36

Survival and Prognostic Factors Prior to Enzyme Replacement Therapy in 302 Children and Adults with Pompe Disease

Deniz Güngör, Juna M. de Vries, Wim C.J. Hop, Arnold J.J. Reuser, Pieter A. van Doorn, Ans T. van der Ploeg, Marloes L.C. Hagemans

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 73 KB

english, 2011

37

Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease)

Klaske D. Lichtenbelt, Marian A. Kroos, Richard J. Sinke, John J.H. Wokke, Arnold J.J. Reuser, Margreet G.E.M. Ausems

Journal:

Experimental and Molecular Pathology

Year:

2006

Language:

english

File:

PDF, 73 KB

english, 2006

38

Cochlear system and hearing deficits

Ans van der Ploeg, Carine van Capelle, Arnold Reuser, J.M. van den Hout

Journal:

Clinical Therapeutics

Year:

2010

Language:

english

File:

PDF, 240 KB

english, 2010

39

Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles

Arnold J. J. Reuser, Maarten R. Drost

Journal:

Acta Paediatrica

Year:

2006

Language:

english

File:

PDF, 254 KB

english, 2006

40

Km mutant of acid α-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement

Yoshiyuki Suzuki, Akihiko Tsuji, Kiyoshi Omura, Gen Nakamura, Shoichi Awa, Marian Kroos, Arnold J. J. Reuser

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 672 KB

english, 1988

41

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

Margreet G. E. M. Ausems, Marian A. Kroos, Magna Van der Kraan, Jan A. M. Smeitink, Wim J. Kleijer, Hans Kristian Ploos van Amstel, Arnold J. J. Reuser

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 488 KB

english, 1996

42

The Induction of Translocators for Di- and Tricarboxylic-Acid Anions in Azotobacter vinelandii

Arnold J. J. Reuser, Pieter W. Postma

Journal:

Year:

1973

Language:

english

File:

PDF, 847 KB

english, 1973

43

Monoclonal Antibodies against Human β-Glucocerebrosidase

Ruud A. BARNEVELD, Frans P. W. TEGELAERS, Edward I. GINNS, Pim VISSER, Elly A. LAANEN, Roscoe O. BRADY, Hans GALJAARD, John A. BARRANGER, Arnold J. J. REUSER, Joseph M. TAGER

Journal:

Year:

1983

Language:

english

File:

PDF, 589 KB

english, 1983

44

Isolation and characterization of a precursor form of lysosomal α-glucosidase from human urine

Ronald P. J. OUDE ELFERINK, Elisabeth M. BROUWER-KELDER, Inge SURYA, Anneke STRIJLAND, Marian KROOS, Arnold J. J. REUSER, Joseph M. TAGER

Journal:

Year:

1984

Language:

english

File:

PDF, 735 KB

english, 1984

45

Use of a monoclonal antibody to distinguish between precursor and mature forms of human lysosomal α-glucosidase

Ronald P. J. OUDE ELFERINK, Anneke STRIJLAND, Inge SURYA, Elisabeth M. BROUWER-KELDER, Marian KROOS, John HILKENS, Jo HILGERS, Arnold J. J. REUSER, Joseph M. TAGER

Journal:

Year:

1984

Language:

english

File:

PDF, 707 KB

english, 1984

46

Biosynthesis and intracellular transport of α-glucosidase and cathepsin D in normal and mutant human fibroblasts

Ronald P. J. OUDE ELFERINK, Judith VAN DOORN-VAN WAKEREN, Anneke STRIJLAND, Arnold J. J. REUSER, Joseph M. TAGER

Journal:

Year:

1985

Language:

english

File:

PDF, 1.32 MB

english, 1985

47

Isolation and Characterisation of a Recombinant, Precursor form of Lysosomal Acid α-Glucosidase

Maria Fuller, Ans Van Der Ploeg, Arnold J. J. Reuser, Donald S. Anson, John J. Hopwood

Journal:

Year:

1995

Language:

english

File:

PDF, 895 KB

english, 1995

48

Mutation Detection in Glycogen Storage Disease Type II by RT-PCR and Automated Sequencing

Monique M.P. Hermans, Dik van Leenen, Marian A. Kroos, Arnold J.J. Reuser

Journal:

Biochemical and Biophysical Research Communications

Year:

1997

Language:

english

File:

PDF, 205 KB

english, 1997

49

Cloning a cDNA for the lysosomal α-glucosidase

Ad Konings, Pauline Hupkes, Rogier Versteeg, Gerard Grosveld, Arnold Reuser, Hans Galjaard

Journal:

Biochemical and Biophysical Research Communications

Year:

1984

Language:

english

File:

PDF, 1.07 MB

english, 1984

50

Determination of Gaucher's disease phenotypes with monoclonal antibody

Edward I. Ginns, Franz P.W. Tegelaers, Ruud Barneveld, Hans Galjaard, Arnold J.J. Reuser, Roscoe O. Brady, Joseph M. Tager, John A. Barranger

Journal:

Clinica Chimica Acta

Year:

1983

Language:

english

File:

PDF, 377 KB

english, 1983