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Page 1
Chitotriosidase as a biomarker for gangliosidoses.
Mol Genet Metab Rep. 2021 Oct 1;29:100803. doi: 10.1016/j.ymgmr.2021.100803. eCollection 2021 Dec.
Mol Genet Metab Rep. 2021.
PMID: 34646735
Free PMC article.
Physiologically-Based Pharmacokinetic Model Development, Validation, and Application for Prediction of Eliglustat Drug-Drug Interactions.
Sahasrabudhe SA, Cheng S, Al-Kofahi M, Jarnes JR, Weinreb NJ, Kartha RV.
Sahasrabudhe SA, et al. Among authors: jarnes jr.
Clin Pharmacol Ther. 2022 Dec;112(6):1254-1263. doi: 10.1002/cpt.2738. Epub 2022 Sep 30.
Clin Pharmacol Ther. 2022.
PMID: 36056771
Free PMC article.
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Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system.
Kim S, Przybilla MJ, Whitley CB, Ou L, Al-Kofahi M, Jarnes JR.
Kim S, et al. Among authors: jarnes jr.
Mol Genet Metab Rep. 2022 Sep 18;33:100917. doi: 10.1016/j.ymgmr.2022.100917. eCollection 2022 Dec.
Mol Genet Metab Rep. 2022.
PMID: 36159322
Free PMC article.
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Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy.
Kartha RV, Joers J, Terluk MR, Travis A, Rudser K, Tuite PJ, Weinreb NJ, Jarnes JR, Cloyd JC, Öz G.
Kartha RV, et al. Among authors: jarnes jr.
J Inherit Metab Dis. 2020 May;43(3):564-573. doi: 10.1002/jimd.12182. Epub 2019 Dec 17.
J Inherit Metab Dis. 2020.
PMID: 31613991
Free PMC article.
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Patients with Gaucher disease display systemic oxidative stress dependent on therapy status.
Kartha RV, Terluk MR, Brown R, Travis A, Mishra UR, Rudser K, Lau H, Jarnes JR, Cloyd JC, Weinreb NJ.
Kartha RV, et al. Among authors: jarnes jr.
Mol Genet Metab Rep. 2020 Dec 9;25:100667. doi: 10.1016/j.ymgmr.2020.100667. eCollection 2020 Dec.
Mol Genet Metab Rep. 2020.
PMID: 33335836
Free PMC article.
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Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis.
Przybilla MJ, Stewart C, Carlson TW, Ou L, Koniar BL, Sidhu R, Kell PJ, Jiang X, Jarnes JR, O'Sullivan MG, Whitley CB.
Przybilla MJ, et al. Among authors: jarnes jr.
Mol Genet Metab Rep. 2021 Mar 25;27:100748. doi: 10.1016/j.ymgmr.2021.100748. eCollection 2021 Jun.
Mol Genet Metab Rep. 2021.
PMID: 33854948
Free PMC article.
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Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.
Májovská J, Nestrašil I, Ahmed A, Bondy MT, Klempíř J, Jahnová H, Schneider SA, Horáková D, Krásenský J, Ješina P, Vaneckova M, Nascene DR, Whitley CB, Jarnes JR, Magner M, Dušek P.
Májovská J, et al. Among authors: jarnes jr.
J Inherit Metab Dis. 2024 Mar;47(2):327-339. doi: 10.1002/jimd.12700. Epub 2023 Dec 19.
J Inherit Metab Dis. 2024.
PMID: 38112342
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