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Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.
Mol Genet Metab. 2023 Nov;140(3):107688. doi: 10.1016/j.ymgme.2023.107688. Epub 2023 Aug 23.
Mol Genet Metab. 2023.
PMID: 37647829
Review.
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.
De Graef D, Ligezka AN, Rezents J, Mazza GL, Preston G, Schwartz K, Krzysciak W, Lam C, Edmondson AC, Johnsen C, Kozicz T, Morava E.
De Graef D, et al.
Mol Genet Metab. 2023 Jun;139(2):107606. doi: 10.1016/j.ymgme.2023.107606. Epub 2023 May 9.
Mol Genet Metab. 2023.
PMID: 37224763
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Mannose treatment improves immune deficiency in mannose phosphate isomerase-congenital disorder of glycosylation: case report and review of literature.
De Graef D, Mousa J, Waberski MB, Morava E.
De Graef D, et al.
Ther Adv Rare Dis. 2022 Apr 17;3:26330040221091283. doi: 10.1177/26330040221091283. eCollection 2022 Jan-Dec.
Ther Adv Rare Dis. 2022.
PMID: 37180423
Free PMC article.
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N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.
Budhraja R, Saraswat M, De Graef D, Ranatunga W, Ramarajan MG, Mousa J, Kozicz T, Pandey A, Morava E.
Budhraja R, et al. Among authors: de graef d.
J Inherit Metab Dis. 2023 Jan;46(1):76-91. doi: 10.1002/jimd.12557. Epub 2022 Oct 4.
J Inherit Metab Dis. 2023.
PMID: 36102038
Free PMC article.
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Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants.
Mousa J, Veres L, Mohamed A, De Graef D, Morava E.
Mousa J, et al. Among authors: de graef d.
Mol Genet Metab Rep. 2022 Jul 25;32:100901. doi: 10.1016/j.ymgmr.2022.100901. eCollection 2022 Sep.
Mol Genet Metab Rep. 2022.
PMID: 36046393
Free PMC article.
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