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primary carnitine deficiency相关文献:
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
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
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
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 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
l-carnitine: Nutrition, pathology, and health benefits.
Alhasaniah AH.
Saudi J Biol Sci. 2023 Feb;30(2):103555. doi: 10.1016/j.sjbs.2022.103555. Epub 2022 Dec 30.
PMID:36632072
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.
Magoulas PL, El-Hattab AW.
Orphanet J Rare Dis. 2012 Sep 18;7:68. doi: 10.1186/1750-1172-7-68.
PMID:22989098
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
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