Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 1
2013 1
2019 1
2020 2
2021 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Niño MY, In't Groen SLM, de Faria DOS, Hoogeveen-Westerveld M, van den Hout HJMP, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP. Niño MY, et al. 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.
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.