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primary carnitine deficiency相关文献:
Primary Carnitine Deficiency.
El-Hattab AW, Almannai M.
2012 Mar 15 [updated 2024 Dec 5]. 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:22420015
Functional and molecular studies in primary carnitine deficiency.
Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N.
Hum Mutat. 2017 Dec;38(12):1684-1699. doi: 10.1002/humu.23315. Epub 2017 Sep 14.
PMID:28841266
Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis.
Zhou J, Li G, Zeng Y, Qiu X, Zhao P, Huang T, Wang X, Luo J, Lin N, Xu L.
Orphanet J Rare Dis. 2024 Jul 3;19(1):248. doi: 10.1186/s13023-024-03267-x.
PMID:38961493
Primary carnitine deficiency and cardiomyopathy.
Fu L, Huang M, Chen S.
Korean Circ J. 2013 Dec;43(12):785-92. doi: 10.4070/kcj.2013.43.12.785.
PMID:24385988
Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.
Crefcoeur LL, Visser G, Ferdinandusse S, Wijburg FA, Langeveld M, Sjouke B.
J Inherit Metab Dis. 2022 May;45(3):386-405. doi: 10.1002/jimd.12475. Epub 2022 Feb 3.
PMID:34997761
Primary carnitine deficiency.
Scholte HR, Rodrigues Pereira R, de Jonge PC, Luyt-Houwen IE, Hedwig M, Verduin M, Ross JD.
J Clin Chem Clin Biochem. 1990 May;28(5):351-7.
PMID:2199596
Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.
Longo N.
Ann Nutr Metab. 2016;68 Suppl 3:5-9. doi: 10.1159/000448321. Epub 2016 Dec 9.
PMID:27931018
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
Lefèvre CR, Labarthe F, Dufour D, Moreau C, Faoucher M, Rollier P, Arnoux JB, Tardieu M, Damaj L, Bendavid C, Dessein AF, Acquaviva-Bourdain C, Cheillan D.
Int J Neonatal Screen. 2023 Feb 1;9(1):6. doi: 10.3390/ijns9010006.
PMID:36810318
Primary carnitine deficiency is a life-long disease.
Crefcoeur LL, Melles MC, Bruning TA, Pereira RR, Langendonk JG.
JIMD Rep. 2022 Jul 27;63(6):524-528. doi: 10.1002/jmd2.12319. eCollection 2022 Nov.
PMID:36341172
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.
Stem Cell Reports. 2023 Nov 14;18(11):2123-2137. doi: 10.1016/j.stemcr.2023.09.002. Epub 2023 Oct 5.
PMID:37802072
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