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Mitochondrial Hepatopathies.
Alharbi H, Priestley JRC, Wilkins BJ, Ganetzky RD. Alharbi H, et al. Clin Liver Dis (Hoboken). 2021 Jul 22;18(5):243-250. doi: 10.1002/cld.1133. eCollection 2021 Nov. Clin Liver Dis (Hoboken). 2021. PMID: 34840726 Free PMC article. Review. No abstract available.
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.
Priestley JRC, Alharbi H, Callahan KP, Guzman H, Payan-Walters I, Smith L, Ficicioglu C, Ganetzky RD, Ahrens-Nicklas RC. Priestley JRC, et al. Among authors: alharbi h. Int J Neonatal Screen. 2020 Jun;6(2):39. doi: 10.3390/ijns6020039. Epub 2020 May 16. Int J Neonatal Screen. 2020. PMID: 32832707 Free PMC article.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Alharbi H, Daniel EJP, Thies J, Chang I, Goldner DL, Ng BG, Witters P, Aqul A, Velez-Bartolomei F, Enns GM, Hsu E, Kichula E, Lee E, Lourenco C, Poskanzer SA, Rasmussen S, Saarela K, Wang YM, Raymond KM, Schultz MJ, Freeze HH, Lam C, Edmondson AC, He M. Alharbi H, et al. J Inherit Metab Dis. 2023 Mar;46(2):300-312. doi: 10.1002/jimd.12589. Epub 2023 Jan 29. J Inherit Metab Dis. 2023. PMID: 36651831 Free PMC article.
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Häberle J, Munnich A, Rötig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J. Schiff M, et al. Among authors: alharbi h. Hum Mol Genet. 2015 Jun 1;24(11):3238-47. doi: 10.1093/hmg/ddv074. Epub 2015 Feb 26. Hum Mol Genet. 2015. PMID: 25721401 Free PMC article.
267 results