https://scholars.lib.ntu.edu.tw/handle/123456789/525136
標題: | Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation | 作者: | Chen Y.-C. YIN-HSIU CHIEN Chen P.-W. Leung-Sang Tang N. Chiu P.-C. WUH-LIANG HWU NI-CHUNG LEE |
公開日期: | 2013 | 卷: | 34 | 期: | 4 | 起(迄)頁: | 655 | 來源出版物: | Human Mutation | URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84875515978&doi=10.1002%2fhumu.22286&partnerID=40&md5=99b22274f83bc5e894f7a0e78a6087e3 https://scholars.lib.ntu.edu.tw/handle/123456789/525136 |
ISSN: | 1059-7794 | DOI: | 10.1002/humu.22286 | SDG/關鍵字: | carnitine; amino acid blood level; asymptomatic disease; cardiomyopathy; carnitine deficiency; dried blood spot testing; faintness; gene mutation; genetic screening; genotype; genotype phenotype correlation; homozygosity; human; letter; newborn screening; phenotype; population genetics; priority journal; supplementation; Animals; Cardiomyopathies; Carnitine; Female; Humans; Hyperammonemia; Muscular Diseases; Organic Cation Transport Proteins |
顯示於: | 醫學系 |
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