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Page 1
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Mol Genet Metab. 2020 Apr;129(4):292-302. doi: 10.1016/j.ymgme.2020.01.007. Epub 2020 Jan 22.
Mol Genet Metab. 2020.
PMID: 32033912
Free PMC article.
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Wang RY, Movsesyan N, Plummer E, Schaffer JE, Ory DS, Jiang X.
Sidhu R, et al. Among authors: do and.
Mol Genet Metab. 2020 Dec;131(4):405-417. doi: 10.1016/j.ymgme.2020.11.005. Epub 2020 Nov 18.
Mol Genet Metab. 2020.
PMID: 33257258
Free PMC article.
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Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen.
Barber LA, Abbott C, Nakhate V, Do AND, Blissett AR, Marini JC.
Barber LA, et al. Among authors: do and.
Genet Med. 2019 May;21(5):1233-1239. doi: 10.1038/s41436-018-0307-y. Epub 2018 Oct 1.
Genet Med. 2019.
PMID: 30270360
Free PMC article.
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Rapid turnover of the mTOR complex 1 (mTORC1) repressor REDD1 and activation of mTORC1 signaling following inhibition of protein synthesis.
Kimball SR, Do AND, Kutzler L, Cavener DR, Jefferson LS.
Kimball SR, et al. Among authors: do and.
J Biol Chem. 2008 Feb 8;283(6):3465-3475. doi: 10.1074/jbc.M706643200. Epub 2007 Dec 10.
J Biol Chem. 2008.
PMID: 18070882
Free PMC article.
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