Marian KROOS: search on Z-Library

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1

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

2

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

3

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

Nadine AME van der Beek, Juna M de Vries, Marloes LC Hagemans, Wim CJ Hop, Marian A Kroos, John HJ Wokke, Marianne de Visser, Baziel GM van Engelen, Jan BM Kuks, Anneke J van der Kooi, Nicolette C Not

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 584 KB

english, 2012

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

Year:

1995

Language:

english

File:

PDF, 508 KB

english, 1995

5

High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy

Poelman, Esther, Hoogeveen-Westerveld, Marianne, Kroos-de Haan, Marian A., van den Hout, Johanna M.P., Bronsema, Kees J., van de Merbel, Nico C., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim

Journal:

The Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 1.16 MB

english, 2018

6

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

7

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

8

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

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, Michela

Journal:

European Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 718 KB

english, 2019

9

Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II

Monique M.P. Hermans, Dik van Leenen, Marian A. Kroos, Clare E. Beesley, Ans T. Van der Ploeg, Hitoshi Sakuraba, Ron Wevers, Wim Kleijer, Helen Michelakakis, Edwin P. Kirk, Janice Fletcher, Nils Bossh

Journal:

Year:

2004

Language:

english

File:

PDF, 282 KB

english, 2004

10

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

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

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 115 KB

english, 2008

11

Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid α-glucosidase

Ans T. van der Ploeg, Marian Kroos, Johan M. van Dongen, Willem J. Visser, Piet A. Bolhuis, M.Christa B. Loonen, Arnold J.J. Reuser

Journal:

Journal of the Neurological Sciences

Year:

1987

Language:

english

File:

PDF, 1.07 MB

english, 1987

12

Structural modeling of mutant α-glucosidases resulting in a processing/transport defect in Pompe disease

Sugawara, Kanako, Saito, Seiji, Sekijima, Masakazu, Ohno, Kazuki, Tajima, Youichi, Kroos, Marian A, Reuser, Arnold J J, Sakuraba, Hitoshi

Journal:

Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 649 KB

english, 2009

13

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

14

Chemical chaperones improve transport and enhance stability of mutant α-glucosidases in glycogen storage disease type II

Toshika Okumiya, Marian A. Kroos, Laura Van Vliet, Hiroaki Takeuchi, Ans T. Van der Ploeg, Arnold J.J. Reuser

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 542 KB

english, 2007

15

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

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, Michela

Journal:

European Journal of Human Genetics

Year:

2019

File:

PDF, 718 KB

2019

16

Extended Formation Flight at Transonic Speeds

Ning, S. Andrew, Kroo, Ilan, Aftosmis, Michael J., Nemec, Marian, Kless, James E.

Journal:

Journal of Aircraft

Year:

2014

Language:

english

File:

PDF, 854 KB

english, 2014

17

Cell-free translation of human lysosomal α-glucosidase: Evidence for reduced precursor synthesis in an adult patient with glycogenosis type II

Gijsbertus T.J. van der Horst, Elizabeth H. Hoefsloot, Marian A. Kroos, Arnold J.J. Reuser

Journal:

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

Year:

1987

Language:

english

File:

PDF, 562 KB

english, 1987

18

Prenatal Diagnosis of Glycogen Storage Disease Type II: Enzyme Assay or Mutation Analysis?

Kleijer, Wim J, Der Kraan, Magna Van, Kroos, Marian A, Groener, Johanna E M, Van Diggelen, Otto P, Reuser, Arnold J J, Van Der Ploeg, Ans T

Journal:

Pediatric Research

Year:

1995

Language:

english

File:

PDF, 431 KB

english, 1995

19

Identification and Characterization of Aberrant GAA Pre-mRNA Splicing in Pompe Disease Using a Generic Approach

Bergsma, Atze J., Kroos, Marian, Hoogeveen-Westerveld, Marianne, Halley, Dicky, van der Ploeg, Ans T., Pijnappel, W. W.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.12 MB

english, 2015

20

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

21

High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

Shingo Kumamoto, Tatsuya Katafuchi, Kimitoshi Nakamura, Fumio Endo, Eri Oda, Torayuki Okuyama, Marian A. Kroos, Arnold J.J. Reuser, Toshika Okumiya

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 240 KB

english, 2009

22

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

23

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

24

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

25

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

26

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

27

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

28

Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach

Bergsma, Atze J., Kroos, Marian, Hoogeveen-Westerveld, Marianne, Halley, Dicky, van der Ploeg, Ans T., Pim Pijnappel, W.W.M.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 118 KB

2015

29

High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa

Juna M. de Vries, Nadine A.M.E. van der Beek, Marian A. Kroos, Lale Özkan, Pieter A. van Doorn, Susan M. Richards, Crystal C.C. Sung, Jan-Dietert C. Brugma, Adrienne A.M. Zandbergen, Ans T. van der Pl

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 543 KB

english, 2010

30

The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II

Hermans, Monique M.P., De Graaff, Esther, Kroos, Marian A., Mohkamsing, Serita, Eussen, Bert J., Joosse, Marijke, Willemsen, Rob, Kleijer, Wim J., Oostra, Ben A., Reuser, Arnold J.J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.07 MB

english, 1994

31

Response to Herbert et al.

de Vries, Juna M, Kuperus, Esther, Hoogeveen-Westerveld, Marianne, Kroos, Marian A, Wens, Stephan C A, Stok, Merel, van der Beek, Nadine A M E, Kruijshaar, Michelle E, Rizopoulos, Dimitris, van Doorn,

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 79 KB

english, 2017

32

Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease

Stephan C.A. Wens, Marian A. Kroos, Juna M. de Vries, Marianne Hoogeveen-Westerveld, Mark G.J.M. Wijgerde, Pieter A. van Doorn, Ans T. van der Ploeg, Arnold J.J. Reuser

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 579 KB

english, 2012

33

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

34

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

Year:

1987

Language:

english

File:

PDF, 104 KB

english, 1987

35

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

36

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity

Niño, Monica Y., in ’t Groen, Stijn L.M., Bergsma, Atze J., van der Beek, Nadine A.M.E., Kroos, Marian, Hoogeveen-Westerveld, Marianne, van der Ploeg, Ans T., Pijnappel, W.W.M. Pim

Journal:

Year:

2019

Language:

english

File:

PDF, 555 KB

english, 2019

37

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots

Shohei Shigeto, Tatsuya Katafuchi, Yuya Okada, Kimitoshi Nakamura, Fumio Endo, Torayuki Okuyama, Hiroaki Takeuchi, Marian A. Kroos, Frans W. Verheijen, Arnold J.J. Reuser, Toshika Okumiya

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 484 KB

english, 2011

38

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes

Toshika Okumiya, Joke L.M. Keulemans, Marian A. Kroos, Nadine M.E. Van der Beek, Marijke A. Boer, Hiroaki Takeuchi, Otto P. Van Diggelen, Arnold J.J. Reuser

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 273 KB

english, 2006

39

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

40

Anti-alglucosidase alfa antibodies and infusion-associated reactions in 73 treated adult Pompe disease patients

van der Ploeg, Ans T., de Vries, Juna M., Kuperus, Esther, Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Kruijshaar, Michelle E., van Doorn, Pieter A., Pijnappel, W.W.M. (Pim)

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 53 KB

english, 2015

41

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

42

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

43

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

44

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn

Marian A Kroos, Janbernd Kirschner, Frank N Gellerich, Monique M.P Hermans, Ans T Van der Ploeg, Arnold J.J Reuser, Rudolf Korinthenberg

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 93 KB

english, 2004

45

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

Kuperus, Esther, van der Meijden, Jan C., in ’t Groen, Stijn L. M., Kroos, Marian A., Hoogeveen-Westerveld, Marianne, Rizopoulos, Dimitris, Martinez, Monica Yasmin Nino, Kruijshaar, Michelle E., van D

Journal:

Year:

2018

Language:

english

File:

PDF, 1.48 MB

english, 2018

46

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype

Vollebregt, Audrey A M, Hoogeveen-Westerveld, Marianne, Kroos, Marian A, Oussoren, Esmee, Plug, Iris, Ruijter, George J, van der Ploeg, Ans T, Pijnappel, W W M Pim

Journal:

Developmental Medicine & Child Neurology

Year:

2017

Language:

english

File:

PDF, 310 KB

english, 2017

47

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

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