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Page 1
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Hum Mutat. 2021 Nov;42(11):1461-1472. doi: 10.1002/humu.24272. Epub 2021 Sep 8.
Hum Mutat. 2021.
PMID: 34405923
Free PMC article.
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
Niño MY, Wijgerde M, de Faria DOS, Hoogeveen-Westerveld M, Bergsma AJ, Broeders M, van der Beek NAME, van den Hout HJM, van der Ploeg AT, Verheijen FW, Pijnappel WWMP.
Niño MY, et al.
Eur J Hum Genet. 2021 Mar;29(3):434-446. doi: 10.1038/s41431-020-00752-2. Epub 2020 Nov 8.
Eur J Hum Genet. 2021.
PMID: 33162552
Free PMC article.
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Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Niño MY, In 't Groen SLM, Bergsma AJ, van der Beek NAME, Kroos M, Hoogeveen-Westerveld M, van der Ploeg AT, Pijnappel WWMP.
Niño MY, et al.
Hum Mutat. 2019 Nov;40(11):1954-1967. doi: 10.1002/humu.23854. Epub 2019 Jul 29.
Hum Mutat. 2019.
PMID: 31254424
Free PMC article.
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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
de Faria DOS, 't Groen SLMI, Hoogeveen-Westerveld M, Nino MY, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP.
de Faria DOS, et al. Among authors: nino my.
Hum Mutat. 2021 Feb;42(2):119-134. doi: 10.1002/humu.24148. Epub 2020 Dec 21.
Hum Mutat. 2021.
PMID: 33560568
Free PMC article.
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Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.
Niño MY, Mateus HE, Fonseca DJ, Kroos MA, Ospina SY, Mejía JF, Uribe JA, Reuser AJ, Laissue P.
Niño MY, et al.
JIMD Rep. 2013;7:39-48. doi: 10.1007/8904_2012_138. Epub 2012 Apr 19.
JIMD Rep. 2013.
PMID: 23430493
Free PMC article.
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