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Quoted phrase not found in phrase index: "Renal carnitine transport defect"
Page 1
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 …
Disorders of carnitine biosynthesis and transport.
El-Hattab AW, Scaglia F. El-Hattab AW, et al. Mol Genet Metab. 2015 Nov;116(3):107-12. doi: 10.1016/j.ymgme.2015.09.004. Epub 2015 Sep 10. Mol Genet Metab. 2015. PMID: 26385306 Review.
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.
Significance of l-carnitine for human health.
Adeva-Andany MM, Calvo-Castro I, Fernández-Fernández C, Donapetry-García C, Pedre-Piñeiro AM. Adeva-Andany MM, et al. IUBMB Life. 2017 Aug;69(8):578-594. doi: 10.1002/iub.1646. Epub 2017 Jun 26. IUBMB Life. 2017. PMID: 28653367 Free article. Review.
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.
Carnitine deficiency in chronic critical illness.
Bonafé L, Berger MM, Que YA, Mechanick JI. Bonafé L, et al. Curr Opin Clin Nutr Metab Care. 2014 Mar;17(2):200-9. doi: 10.1097/MCO.0000000000000037. Curr Opin Clin Nutr Metab Care. 2014. PMID: 24500444 Review.
58 results