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Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.
Swanson MA, Jiang H, Busquet N, Carlsen J, Brindley C, Benke TA, Van Hove RA, Friederich MW, MacLean KN, Mesches MH, Van Hove JLK. Swanson MA, et al. Among authors: jiang h. bioRxiv [Preprint]. 2024 Mar 29:2024.03.26.586818. doi: 10.1101/2024.03.26.586818. bioRxiv. 2024. PMID: 38586005 Free PMC article. Preprint.
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR 2nd, Banerjee R, Haack TB, Van Hove JLK. Friederich MW, et al. Among authors: jiang h. J Inherit Metab Dis. 2020 Sep;43(5):1024-1036. doi: 10.1002/jimd.12232. Epub 2020 Apr 15. J Inherit Metab Dis. 2020. PMID: 32160317 Free PMC article.
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.
Van Hove JLK, Freehauf CL, Ficicioglu C, Pena LDM, Moreau KL, Henthorn TK, Christians U, Jiang H, Cowan TM, Young SP, Hite M, Friederich MW, Stabler SP, Spector EB, Kronquist KE, Thomas JA, Emmett P, Harrington MJ, Pyle L, Creadon-Swindell G, Wempe MF, MacLean KN. Van Hove JLK, et al. Among authors: jiang h. J Inherit Metab Dis. 2019 May;42(3):424-437. doi: 10.1002/jimd.12085. Epub 2019 Apr 11. J Inherit Metab Dis. 2019. PMID: 30873612 Clinical Trial.
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