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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
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
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; 1993–2024.
PMID:20301431
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
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
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
Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency.
Angelini C, Trevisan C, Isaya G, Pegolo G, Vergani L.
Clin Biochem. 1987 Feb;20(1):1-7. doi: 10.1016/s0009-9120(87)80090-5.
PMID:3552320
Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.
Joshi PR, Deschauer M, Zierz S.
J Neurol Sci. 2014 Mar 15;338(1-2):107-11. doi: 10.1016/j.jns.2013.12.026. Epub 2013 Dec 23.
PMID:24398345
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