Wen P, Chen Z, Wang G, Su Z, Zhang X, Tang G, et al
. [Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33:286-91 pubmed publisher
..Urine organic acid and blood acylcarnitine analyses play an important role in the diagnosis of the disease. The compound heterozygous of ACAT1 gene mutations probably underlie the BKTD in our patient. ..
Wen P, Chen Z, Wang G, Liu X, Chen L, Chen S, et al
. [Genetic analysis of ASS1, ASL and SLC25A13 in citrullinemia patients]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014;31:268-71 pubmed publisher
..A thirteen months boy who carried a heterozygous 851del4 mutation (SLC25A13 gene) was diagnosed with citrullinemia adult-onset type II. Through analysis of relevant pathogenic genes, four patients have been diagnosed. ..