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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. Among authors: hoogeveen westerveld m. 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.
A reliable cell-based assay for testing unclassified TSC2 gene variants.
Coevoets R, Arican S, Hoogeveen-Westerveld M, Simons E, van den Ouweland A, Halley D, Nellist M. Coevoets R, et al. Eur J Hum Genet. 2009 Mar;17(3):301-10. doi: 10.1038/ejhg.2008.184. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854862 Free PMC article.
The genotype-phenotype correlation in Pompe disease.
Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ. Kroos M, et al. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):59-68. doi: 10.1002/ajmg.c.31318. Epub 2012 Jan 17. Am J Med Genet C Semin Med Genet. 2012. PMID: 22253258 Review.
60 results