Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1991 | 1 |
2021 | 1 |
2023 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias.
Am J Hum Genet. 1991 Feb;48(2):351-61.
Am J Hum Genet. 1991.
PMID: 1671321
Free PMC article.
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.
Majethia P, Somashekar PH, Hebbar M, Kadavigere R, Praveen BK, Girisha KM, Shukla A.
Majethia P, et al.
Clin Genet. 2021 Aug;100(2):201-205. doi: 10.1111/cge.13970. Epub 2021 May 3.
Clin Genet. 2021.
PMID: 33890291
Free PMC article.
Item in Clipboard
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt Ii J, Pérez B, Ugarte M, Grünewald S, Riela AR, Julve N, Arnoux JB, Haldar K, Donnini C, Santer R, Lund AM, Mayr JA, Rodriguez-Pombo P, Van Hove JLK.
Arribas-Carreira L, et al.
Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246.
Hum Mol Genet. 2023.
PMID: 36190515
Free PMC article.
Item in Clipboard
Cite
Cite