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Kroos, Marian A.
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1

Extension of the Pompe mutation database by linking disease..:

Niño, Monica Y. ; in 't Groen, Stijn L.M. ; Bergsma, Atze J....
Human Mutation.  40 (2019)  11 - p. 1954-1967 , 2019
Link: https://doi.org/10.1002/..
 
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2

Segmental and total uniparental isodisomy (UPiD) as a disea..:

Labrijn-Marks, Ineke ; Somers-Bolman, Galhana M. ; In 't Groen, Stijn L. M....
European Journal of Human Genetics.  27 (2019)  6 - p. 919-927 , 2019
Link: https://doi.org/10.1038/..
 
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3

The ACE I/D polymorphism does not explain heterogeneity of ..:

Kuperus, Esther ; van der Meijden, Jan C. ; in 't Groen, Stijn L. M....
PLOS ONE.  13 (2018)  12 - p. e0208854 , 2018
Link: https://doi.org/10.1371/..
 
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4

Response to Herbert et al:

de Vries, Juna M ; Kuperus, Esther ; Hoogeveen-Westerveld, Marianne...
Genetics in Medicine.  19 (2017)  11 - p. 1282-1283 , 2017
Link: https://doi.org/10.1038/..
 
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5

Genotype–phenotype relationship in mucopolysaccharidosis II..:

Vollebregt, Audrey A M ; Hoogeveen‐Westerveld, Marianne ; Kroos, Marian A...
Developmental Medicine & Child Neurology.  59 (2017)  10 - p. 1063-1070 , 2017
Link: https://doi.org/10.1111/..
 
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6

Pompe disease in adulthood: effects of antibody formation o..:

de Vries, Juna M. ; Kuperus, Esther ; Hoogeveen-Westerveld, Marianne...
Genetics in Medicine.  19 (2017)  1 - p. 90-97 , 2017
Link: https://doi.org/10.1038/..
 
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7

Anti-alglucosidase alfa antibodies and infusion-associated ..:

van der Ploeg, Ans T. ; de Vries, Juna M. ; Kuperus, Esther...
Molecular Genetics and Metabolism.  114 (2015)  2 - p. S121 , 2015
Link: https://doi.org/10.1016/..
 
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8

Identification and Characterization of Aberrant Splicing in..:

Bergsma, Atze J. ; Kroos, Marian ; Hoogeveen-Westerveld, Marianne...
Journal of Neuromuscular Diseases.  2 (2015)  s1 - p. S39-S39 , 2015
Link: https://doi.org/10.3233/..
 
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9

Enzyme therapy and immune response in relation to CRIM stat..:

van Gelder, Carin M. ; Hoogeveen‐Westerveld, Marianne ; Kroos, Marian A....
Journal of Inherited Metabolic Disease.  38 (2014)  2 - p. 305-314 , 2014
Link: https://doi.org/10.1007/..
 
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10

Mucopolysaccharidosis type VI phenotypes-genotypes and anti..:

Brands, Marion M ; Hoogeveen-Westerveld, Marianne ; Kroos, Marian A...
Orphanet Journal of Rare Diseases.  8 (2013)  1 - p. , 2013
Link: https://doi.org/10.1186/..
 
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11

Remarkably low fibroblast acid α-glucosidase activity in th..:

Wens, Stephan C.A. ; Kroos, Marian A. ; de Vries, Juna M....
Molecular Genetics and Metabolism.  107 (2012)  3 - p. 485-489 , 2012
Link: https://doi.org/10.1016/..
 
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12

Clinical features and predictors for disease natural progre..:

van der Beek, Nadine AME ; de Vries, Juna M ; Hagemans, Marloes LC...
Orphanet Journal of Rare Diseases.  7 (2012)  1 - p. 88 , 2012
Link: https://doi.org/10.1186/..
 
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13

The genotype–phenotype correlation in Pompe disease:

Kroos, Marian ; Hoogeveen‐Westerveld, Marianne ; van der Ploeg, Ans.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  160C (2012)  1 - p. 59-68 , 2012
Link: https://doi.org/10.1002/..
 
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14

Improved assay for differential diagnosis between Pompe dis..:

Shigeto, Shohei ; Katafuchi, Tatsuya ; Okada, Yuya...
Molecular Genetics and Metabolism.  103 (2011)  1 - p. 12-17 , 2011
Link: https://doi.org/10.1016/..
 
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15

High antibody titer in an adult with Pompe disease affects ..:

de Vries, Juna M. ; van der Beek, Nadine A.M.E. ; Kroos, Marian A....
Molecular Genetics and Metabolism.  101 (2010)  4 - p. 338-345 , 2010
Link: https://doi.org/10.1016/..
 
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