新生儿原发性肉碱缺乏症1例

孙增贤; 蓝菊红

doi:10.7499/j.issn.1008-8830.2013.01.019

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中国当代儿科杂志 ›› 2013, Vol. 15 ›› Issue (1) : 75-76. DOI: 10.7499/j.issn.1008-8830.2013.01.019

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新生儿原发性肉碱缺乏症1例

孙增贤，蓝菊红

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Primary carnitine deficiency in a neonate

SUN Zeng-Xian, LAN Ju-Hong

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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 https://doi.org/10.7499/j.issn.1008-8830.2013.01.019

SUN Zeng-Xian, LAN Ju-Hong. Primary carnitine deficiency in a neonate[J]. Chinese Journal of Contemporary Pediatrics. 2013, 15(1): 75-76 https://doi.org/10.7499/j.issn.1008-8830.2013.01.019

参考文献

［1］Lindner M, Gramer G, Haege G, Fang-Hoffmann J, Schwab KO, Tacke U, et al. Eficacy 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.

［2］Amat di San Filippo C, Taylor MR, Mestroni L, Botto LD, Longo N. Cardiomyopathy and carnitine deficiency［J］. Mol Genet Metab, 2008, 94(6): 162-166.

［3］李颖，崔其亮.L-肉碱在危重新生儿中的应用［J］. 中国儿童保健杂志，2010，18（2）：138-140.

［4］Lund AM, Joensen F, Hougaard DM, Jensen LK, Christensen E, Christensen M, et al. Carnitine transporter and holocarboxylase synthetase deficiencies in the Faroe Islands［J］. J Inherit Metab Dis, 2007, 30(3): 341-349.

［5］Roe CR, Coates PM. Mitochondrial fatty acid oxidation disorders［M］// Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease.New York, McGraw-Hill, 1995: 1501-1533.