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N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.
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.
Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants.
Muffels IJJ, Sadek M, Kozicz T, Morava E.
Muffels IJJ, et al.
J Inherit Metab Dis. 2024 Sep;47(5):935-944. doi: 10.1002/jimd.12769. Epub 2024 Jun 21.
J Inherit Metab Dis. 2024.
PMID: 39540616
Review.
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