Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G

Objective: To investigate the clinical, biochemical and genetic features of four carnitine-acylcarnitine translocase deficiency cases. Methods: Four cases diagnosed with carnitine-acylcarnitine translocase deficiency from Guangxi Maternal and Child Health Hospital were studied. DNA was extracted fro...

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Veröffentlicht in:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 7 vom: 02. Juli, Seite 545-549
1. Verfasser:	Fan, X (VerfasserIn)
Weitere Verfasser:	Xie, B B, Zhang, Q, Yi, S, Geng, G X, Yang, Q, Luo, J S, Wang, J, Li, C, Chen, S K, Shen, Y P
Format:	Online-Aufsatz
Sprache:	Chinese
Veröffentlicht:	2018
Zugriff auf das übergeordnete Werk:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:	Case Reports Journal Article Carnitine acyltransferases Metabolism, inborn errors Membrane Transport Proteins SLC25A20 protein, human EC 2.3.1. Carnitine Acyltransferases EC 2.3.1.- Carnitine S7UI8SM58A