Primary systemic carnitine deficiency is caused by mutations in the SLC22A5 gene, encoding the high-affinity, sodium ion-dependent carnitine organic cation transporter OCTN2 (Table 60.1).doi:10.1007/978-3-319-07500-6_60Corrado AngeliniA.W. El-Hattab, Systemic primary carnitine deficiency, 2012 ...
Carnitine Palmitoyltransferase II Deficiency Prevention of primary manifestations: Infusions of glucose during intercurrent infections to prevent catabolism; frequent meals; avoiding extended fasting and ... T Wieser - GeneReviews™ 被引量: 0发表: 2003年 AccuDiag™ Myoglobin ELISA Kit Myoglobin, a he...