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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2016 | 1 |
2017 | 1 |
2018 | 1 |
2019 | 1 |
2020 | 1 |
2021 | 1 |
2024 | 1 |
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Mitochondrial function requires NGLY1.
Mitochondrion. 2018 Jan;38:6-16. doi: 10.1016/j.mito.2017.07.008. Epub 2017 Jul 25.
Mitochondrion. 2018.
PMID: 28750948
Free PMC article.
International Paediatric Mitochondrial Disease Scale.
Koene S, Hendriks JCM, Dirks I, de Boer L, de Vries MC, Janssen MCH, Smuts I, Fung CW, Wong VCN, de Coo IRFM, Vill K, Stendel C, Klopstock T, Falk MJ, McCormick EM, McFarland R, de Groot IJM, Smeitink JAM.
Koene S, et al.
J Inherit Metab Dis. 2016 Sep;39(5):705-712. doi: 10.1007/s10545-016-9948-7. Epub 2016 Jun 9.
J Inherit Metab Dis. 2016.
PMID: 27277220
Free PMC article.
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Defining a new immune deficiency syndrome: MAN2B2-CDG.
Verheijen J, Wong SY, Rowe JH, Raymond K, Stoddard J, Delmonte OM, Bosticardo M, Dobbs K, Niemela J, Calzoni E, Pai SY, Choi U, Yamazaki Y, Comeau AM, Janssen E, Henderson L, Hazen M, Berry G, Rosenzweig SD, Aldhekri HH, He M, Notarangelo LD, Morava E.
Verheijen J, et al.
J Allergy Clin Immunol. 2020 Mar;145(3):1008-1011. doi: 10.1016/j.jaci.2019.11.016. Epub 2019 Nov 24.
J Allergy Clin Immunol. 2020.
PMID: 31775018
Free PMC article.
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Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A; CAUSES Study; Niyazov D, van Dijk F, Demirdas S, van Slegtenhorst MA, Kievit AJA, Schulz C, Armstrong L, Bi X, Rader DJ, Izumi K, Zackai EH, de Franco E, Jorge P, Huffels SC, Hommersom M, Ellard S, Lefeber DJ, Santani A, Hand NJ, van Bokhoven H, He M, de Brouwer APM.
Polla DL, et al.
Am J Hum Genet. 2021 Jul 1;108(7):1342-1349. doi: 10.1016/j.ajhg.2021.05.010. Epub 2021 Jun 17.
Am J Hum Genet. 2021.
PMID: 34143952
Free PMC article.
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Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG.
Daniel EJP, Edmondson AC, Argon Y, Alsharhan H, Lam C, Freeze HH, He M.
Daniel EJP, et al.
J Inherit Metab Dis. 2024 Apr 10. doi: 10.1002/jimd.12739. Online ahead of print.
J Inherit Metab Dis. 2024.
PMID: 38597022
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