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3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.
Sasarman F, Ferdinandusse S, Sinasac DS, Fung E, Sparkes R, Reeves M, Rombough C, Sass JO, Voit R, Ruiter JPN, Koster J, Waterham HR, Pasquini E, Donati MA, Marquardt T, Wanders RJA, Al-Hertani W. Sasarman F, et al. Among authors: sinasac ds. J Inherit Metab Dis. 2022 May;45(3):445-455. doi: 10.1002/jimd.12486. Epub 2022 Mar 7. J Inherit Metab Dis. 2022. PMID: 35174513
ALG9-CDG: New clinical case and review of the literature.
Davis K, Webster D, Smith C, Jackson S, Sinasac D, Seargeant L, Wei XC, Ferreira P, Midgley J, Foster Y, Li X, He M, Al-Hertani W. Davis K, et al. Mol Genet Metab Rep. 2017 Sep 6;13:55-63. doi: 10.1016/j.ymgmr.2017.08.004. eCollection 2017 Dec. Mol Genet Metab Rep. 2017. PMID: 28932688 Free PMC article.
SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With DCMA, a Mitochondrial Cardiomyopathy.
Machiraju P, Wang X, Sabouny R, Huang J, Zhao T, Iqbal F, King M, Prasher D, Lodha A, Jimenez-Tellez N, Ravandi A, Argiropoulos B, Sinasac D, Khan A, Shutt TE, Greenway SC. Machiraju P, et al. Front Cardiovasc Med. 2019 Nov 15;6:167. doi: 10.3389/fcvm.2019.00167. eCollection 2019. Front Cardiovasc Med. 2019. PMID: 31803760 Free PMC article.
Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion.
Sabouny R, Wong R, Lee-Glover L, Greenway SC, Sinasac DS; Care4Rare Canada; Khan A, Shutt TE. Sabouny R, et al. Among authors: sinasac ds. Biochim Biophys Acta Mol Basis Dis. 2019 Nov 1;1865(11):165536. doi: 10.1016/j.bbadis.2019.165536. Epub 2019 Aug 20. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 31442532 Free article.
Oral aversion to dietary sugar, ethanol and glycerol correlates with alterations in specific hepatic metabolites in a mouse model of human citrin deficiency.
Saheki T, Inoue K, Ono H, Fujimoto Y, Furuie S, Yamamura KI, Kuroda E, Ushikai M, Asakawa A, Inui A, Eto K, Kadowaki T, Moriyama M, Sinasac DS, Yamamoto T, Furukawa T, Kobayashi K. Saheki T, et al. Among authors: sinasac ds. Mol Genet Metab. 2017 Apr;120(4):306-316. doi: 10.1016/j.ymgme.2017.02.004. Epub 2017 Feb 14. Mol Genet Metab. 2017. PMID: 28259708
31 results