Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation

Chen Y.-C.YIN-HSIU CHIENChen P.-W.Leung-Sang Tang N.Chiu P.-C.WUH-LIANG HWUNI-CHUNG LEE2020-12-092020-12-0920131059-7794https://www.scopus.com/inward/record.uri?eid=2-s2.0-84875515978&doi=10.1002%2fhumu.22286&partnerID=40&md5=99b22274f83bc5e894f7a0e78a6087e3https://scholars.lib.ntu.edu.tw/handle/123456789/525136[SDGs]SDG3carnitine; 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 ProteinsCarnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlationletter10.1002/humu.22286235201152-s2.0-84875515978