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Quoted phrase not found in phrase index: "Renal carnitine transport defect"
Page 1
Carnitine Inborn Errors of Metabolism.
Almannai M, Alfadhel M, El-Hattab AW. Almannai M, et al. Molecules. 2019 Sep 6;24(18):3251. doi: 10.3390/molecules24183251. Molecules. 2019. PMID: 31500110 Free PMC article. Review.
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X, Wu D, Zhu L, Wang W, Yang R, Yang J, He Q, Zhu B, You Y, Xiao R, Zhao Z. Huang X, et al. Orphanet J Rare Dis. 2022 Feb 21;17(1):66. doi: 10.1186/s13023-022-02231-x. Orphanet J Rare Dis. 2022. PMID: 35193651 Free PMC article.
Importantly, 4 of the 77 newborns were diagnosed currently including 1 newborn with methylmalonic acidemia, 1 newborn with primary systemic carnitine deficiency and 2 newborns with Wilson's disease. ...
Importantly, 4 of the 77 newborns were diagnosed currently including 1 newborn with methylmalonic acidemia, 1 newborn with primary system …
Round Table Discussion.
Winter S, Buist NR, Longo N, Armenian SH, Lopaschuk G, Wasilewska A. Winter S, et al. Ann Nutr Metab. 2016;68 Suppl 3:21-23. doi: 10.1159/000448323. Epub 2016 Dec 9. Ann Nutr Metab. 2016. PMID: 27931031 Free article.
Carnitine metabolism and human carnitine deficiency.
Tanphaichitr V, Leelahagul P. Tanphaichitr V, et al. Nutrition. 1993 May-Jun;9(3):246-54. Nutrition. 1993. PMID: 8353366 Review.
Hereditary carnitine deficiency can be grouped into three clinical entities: myopathic carnitine deficiency, systemic carnitine deficiency, and organic acidurias. Acquired carnitine deficiency is due to inadequate intake, increased requirement, and increased …
Hereditary carnitine deficiency can be grouped into three clinical entities: myopathic carnitine deficiency, systemic carnitine …
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L, Ferdinandusse S, van der Crabben SN, Dekkers E, Fuchs SA, Huidekoper H, Janssen M, Langendonk J, Maase R, de Sain M, Rubio E, van Spronsen FJ, Vaz FM, Verschoof R, de Vries M, Wijburg F, Visser G, Langeveld M. Crefcoeur L, et al. J Med Genet. 2023 Nov 27;60(12):1177-1185. doi: 10.1136/jmg-2023-109206. J Med Genet. 2023. PMID: 37487700 Free PMC article.
Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel mechanism.
Loos M, Klampe B, Schulze T, Yin X, Theofilatos K, Ulmer BM, Schulz C, Behrens CS, van Bergen TD, Adami E, Maatz H, Schweizer M, Brodesser S, Skryabin BV, Rozhdestvensky TS, Bodbin S, Stathopoulou K, Christ T, Denning C, Hübner N, Mayr M, Cuello F, Eschenhagen T, Hansen A. Loos M, et al. Stem Cell Reports. 2023 Nov 14;18(11):2123-2137. doi: 10.1016/j.stemcr.2023.09.002. Epub 2023 Oct 5. Stem Cell Reports. 2023. PMID: 37802072 Free PMC article.
100 results