原发性肉碱缺乏症1例报告

程超, 张雪元, 李玖军

中国当代儿科杂志 ›› 2014, Vol. 16 ›› Issue (9) : 952-954.

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中国当代儿科杂志 ›› 2014, Vol. 16 ›› Issue (9) : 952-954. DOI: 10.7499/j.issn.1008-8830.2014.09.019
病例报告

原发性肉碱缺乏症1例报告

  • 程超1, 张雪元2, 李玖军3
作者信息 +

Primary carnitine deficiency in an infant

  • CHENG Chao2, ZHANG Xue-Yuan2, LI Jiu-Jun3
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程超, 张雪元, 李玖军. 原发性肉碱缺乏症1例报告[J]. 中国当代儿科杂志. 2014, 16(9): 952-954 https://doi.org/10.7499/j.issn.1008-8830.2014.09.019
CHENG Chao, ZHANG Xue-Yuan, LI Jiu-Jun. Primary carnitine deficiency in an infant[J]. Chinese Journal of Contemporary Pediatrics. 2014, 16(9): 952-954 https://doi.org/10.7499/j.issn.1008-8830.2014.09.019

参考文献

[1] Amat di San Filippo C, Taylor MR, Mestroni L, et al.Cardiomyopathy and carnitine deficiency[J].Mol Genet Metab,2008, 94(6): 162-166.
[2] Li FY, E-Hattab AW, Bawle EV, et al.Molecular spectrum of SLC22A5(OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine defciency[J].Hum Mutat, 2010,31(8): 1632-1651.
[3] Lee NC, Tang NL, Chien YH, et al.Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening[J].Mol Genet Metab, 2010, 100(1): 46-50.
[4] 孙增贤, 蓝菊红.新生儿原发性肉碱缺乏症 1 例 [J].中国当代儿科杂志, 2013, 15(1): 75-76.
[5] Lindner M, Gramer G, Haege G, et al.Efficacy and outcome of expanded newborn screening for metabolic diseases-report of 10 years from South-West Germany[J].Orphanet J Rare Dis, 2011,6: 44.
[6] 韩连书, 叶军, 邱文娟, 等.原发性肉碱缺乏症 17 例诊治与随访 [J].中华儿科杂志, 2012, 50(6): 405-409.
[7] Laforet P, Vianey-Saban C.Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges[J].Neuromuscul Disord, 20l0, 20(11): 693-700.
[8] Komlosi K, Magyari L, Talian GC, et al.Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency[J].J Inherit Metab Dis, 2009, 32(Suppl 1): S15-S19.
[9] Jalil M A, Horiuchi M, Wakamatsu M, et al.Attenuation of cardiac hypertrophy in carnitine-deficient juveniIe visceral steatosis(JVS)mice achieved by lowering dietary lipid[J].J Biochem, 2006, l39(2): 263-270.

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