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2015 | 2 |
2016 | 1 |
2023 | 1 |
2025 | 0 |
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Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
J Inherit Metab Dis. 2023 Mar;46(2):326-334. doi: 10.1002/jimd.12595. Epub 2023 Feb 3.
J Inherit Metab Dis. 2023.
PMID: 36719165
Free PMC article.
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
Bengtson P, Ng BG, Jaeken J, Matthijs G, Freeze HH, Eklund EA.
Bengtson P, et al.
J Inherit Metab Dis. 2016 Jan;39(1):107-14. doi: 10.1007/s10545-015-9884-y. Epub 2015 Sep 3.
J Inherit Metab Dis. 2016.
PMID: 26335155
Free PMC article.
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Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.
Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH.
Ng BG, et al.
Hum Mol Genet. 2015 Jun 1;24(11):3050-7. doi: 10.1093/hmg/ddv057. Epub 2015 Feb 12.
Hum Mol Genet. 2015.
PMID: 25678555
Free PMC article.
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