Monica Nino Martinez – Research output — Erasmus University Rotterdam

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5 Article
1 Doctoral Thesis

6 results

2021
Broad variation in phenotypes for common GAA genotypes in Pompe disease
Niño, M. Y., in't Groen, S. L. M., de Faria, D. O. S., Hoogeveen-Westerveld, M., van den Hout, H. J. M. P., van der Ploeg, A. T., Bergsma, A. J. & Pijnappel, W. W. M. P., Nov 2021, In: Human Mutation. 42, 11, p. 1461-1472 12 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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3 Citations (Scopus)

32 Downloads (Pure)
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience
Niño, M. Y., Wijgerde, M., de Faria, D. O. S., Hoogeveen-Westerveld, M., Bergsma, A. J., Broeders, M., van der Beek, N. A. M. E., van den Hout, H. J. M., van der Ploeg, A. T., Verheijen, F. W. & Pijnappel, W. W. M. P., Mar 2021, In: European Journal of Human Genetics. 29, 3, p. 434-446 13 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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5 Citations (Scopus)

5 Downloads (Pure)
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening
Oliveira Soares de Faria, D., in 't Groen, S., Hoogeveen - Westerveld, M., Nino Martinez, M., van der Ploeg, A., Bergsma, A. & Pijnappel, P., Feb 2021, In: Human Mutation. 42, 2, p. 119-134 16 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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12 Citations (Scopus)

12 Downloads (Pure)
2020

The Genotype-Phenotype Correlation in Pompe Disease Studied from an Enzymatic and Molecular Perspective
Nino Martinez, M., 7 Jul 2020, Erasmus Universiteit Rotterdam (EUR).
Research output: Types of Thesis › Doctoral Thesis › Internal

Open Access
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1 Downloads (Pure)
2019

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity
Nino Martinez, M., in 't Groen, S., Bergsma, A., van der Beek, N. A. M. E., Kroos, MJ., Hoogeveen - Westerveld, M., van der Ploeg, A. & Pijnappel, P., 2019, In: Human Mutation.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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40 Citations (Scopus)

7 Downloads (Pure)
2018

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease
Kuperus, E., van der Meijden, JC., in 't Groen, S., Haan, M., Hoogeveen - Westerveld, M., Rizopoulos, D., Nino Martinez, M., Kruijshaar, M., van Doorn, P., van der Beek, N. A. M. E., van der Ploeg, A. & Pijnappel, P., 2018, In: PLoS One (online). 13, 12, e0208854.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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6 Citations (Scopus)

8 Downloads (Pure)