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Development of a bile acid-based newborn screen for Niemann-Pick disease type C.
Jiang X, Sidhu R, Mydock-McGrane L, Hsu FF, Covey DF, Scherrer DE, Earley B, Gale SE, Farhat NY, Porter FD, Dietzen DJ, Orsini JJ, Berry-Kravis E, Zhang X, Reunert J, Marquardt T, Runz H, Giugliani R, Schaffer JE, Ory DS. Jiang X, et al. Among authors: dietzen dj. Sci Transl Med. 2016 May 4;8(337):337ra63. doi: 10.1126/scitranslmed.aaf2326. Sci Transl Med. 2016. PMID: 27147587 Free PMC article.
Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease.
Porter FD, Scherrer DE, Lanier MH, Langmade SJ, Molugu V, Gale SE, Olzeski D, Sidhu R, Dietzen DJ, Fu R, Wassif CA, Yanjanin NM, Marso SP, House J, Vite C, Schaffer JE, Ory DS. Porter FD, et al. Among authors: dietzen dj. Sci Transl Med. 2010 Nov 3;2(56):56ra81. doi: 10.1126/scitranslmed.3001417. Sci Transl Med. 2010. PMID: 21048217 Free PMC article.
N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease.
Sidhu R, Mondjinou Y, Qian M, Song H, Kumar AB, Hong X, Hsu FF, Dietzen DJ, Yanjanin NM, Porter FD, Berry-Kravis E, Vite CH, Gelb MH, Schaffer JE, Ory DS, Jiang X. Sidhu R, et al. Among authors: dietzen dj. J Lipid Res. 2019 Aug;60(8):1410-1424. doi: 10.1194/jlr.RA119000157. Epub 2019 Jun 14. J Lipid Res. 2019. PMID: 31201291 Free PMC article.
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Vite CH, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Bodamer O, Wang RY, Plummer E, Schaffer JE, Ory DS, Jiang X. Sidhu R, et al. Among authors: dietzen dj. 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: dietzen dj. 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.
Commentary.
Dietzen DJ. Dietzen DJ. Clin Chem. 2015 Feb;61(2):334. doi: 10.1373/clinchem.2014.229849. Clin Chem. 2015. PMID: 25632099 No abstract available.
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