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NGLY1 deficiency: a prospective natural history study.
Tong S, Ventola P, Frater CH, Klotz J, Phillips JM, Muppidi S, Dwight SS, Mueller WF, Beahm BJ, Wilsey M, Lee KJ. Tong S, et al. Among authors: beahm bj. Hum Mol Genet. 2023 Sep 5;32(18):2787-2796. doi: 10.1093/hmg/ddad106. Hum Mol Genet. 2023. PMID: 37379343 Free PMC article.
GlcNAc-Asn is a biomarker for NGLY1 deficiency.
Mueller WF, Zhu L, Tan B, Dwight S, Beahm B, Wilsey M, Wechsler T, Mak J, Cowan T, Pritchett J, Taylor E, Crawford BE. Mueller WF, et al. J Biochem. 2022 Feb 21;171(2):177-186. doi: 10.1093/jb/mvab111. J Biochem. 2022. PMID: 34697629 Free PMC article.
Metabolic labeling of fucosylated glycans in developing zebrafish.
Dehnert KW, Beahm BJ, Huynh TT, Baskin JM, Laughlin ST, Wang W, Wu P, Amacher SL, Bertozzi CR. Dehnert KW, et al. Among authors: beahm bj. ACS Chem Biol. 2011 Jun 17;6(6):547-52. doi: 10.1021/cb100284d. Epub 2011 Apr 5. ACS Chem Biol. 2011. PMID: 21425872 Free PMC article.