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carnitine palmitoyltransferase deficiency of muscle相关文献:
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
Lehmann D, Motlagh L, Robaa D, Zierz S.
Int J Mol Sci. 2017 Jan 3;18(1):82. doi: 10.3390/ijms18010082.
PMID:28054946
TXNIP/VDUP1 attenuates steatohepatitis via autophagy and fatty acid oxidation.
Park HS, Song JW, Park JH, Lim BK, Moon OS, Son HY, Lee JH, Gao B, Won YS, Kwon HJ.
Autophagy. 2021 Sep;17(9):2549-2564. doi: 10.1080/15548627.2020.1834711. Epub 2020 Nov 16.
PMID:33190588
Carnitine Palmitoyltransferase II Deficiency.
Wieser T.
2004 Aug 27 [updated 2019 Jan 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301431
Inhibition of fatty acid oxidation enables heart regeneration in adult mice.
Li X, Wu F, Günther S, Looso M, Kuenne C, Zhang T, Wiesnet M, Klatt S, Zukunft S, Fleming I, Poschet G, Wietelmann A, Atzberger A, Potente M, Yuan X, Braun T.
Nature. 2023 Oct;622(7983):619-626. doi: 10.1038/s41586-023-06585-5. Epub 2023 Sep 27.
PMID:37758950
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR, Zierz S.
Molecules. 2020 Apr 13;25(8):1784. doi: 10.3390/molecules25081784.
PMID:32295037
Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature.
Mccormick BJ, Chirila RM.
Rom J Intern Med. 2021 Nov 20;59(4):420-424. doi: 10.2478/rjim-2021-0021. Print 2021 Dec 1.
PMID:34118800
Sirt5 improves cardiomyocytes fatty acid metabolism and ameliorates cardiac lipotoxicity in diabetic cardiomyopathy via CPT2 de-succinylation.
Wu M, Tan J, Cao Z, Cai Y, Huang Z, Chen Z, He W, Liu X, Jiang Y, Gao Q, Deng B, Wang J, Yuan W, Zhang H, Chen Y.
Redox Biol. 2024 Jul;73:103184. doi: 10.1016/j.redox.2024.103184. Epub 2024 May 5.
PMID:38718533
Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.
Tajima G, Hara K, Yuasa M.
J Hum Genet. 2019 Feb;64(2):87-98. doi: 10.1038/s10038-018-0530-z. Epub 2018 Dec 4.
PMID:30514913
Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey.
Joshi PR, Deschauer M, Zierz S.
J Clin Neurosci. 2019 Jan;59:32-36. doi: 10.1016/j.jocn.2018.11.023. Epub 2018 Nov 16.
PMID:30455135
Heterogeneity of carnitine-palmitoyltransferase deficiency.
Di Donato S, Castiglione A, Rimoldi M, Cornelio F, Vendemia F, Cardace G, Bertagnolio B.
J Neurol Sci. 1981 May;50(2):207-15. doi: 10.1016/0022-510x(81)90167-2.
PMID:7229666
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