Qinghua Zhang, Chuan Zhang, Yupei Wang, Weikai Wang, Ruifeng Xu, Ling Hui, Xuan Feng, Xing Wang, Lei Zheng, Binbo Zhou, Yan Jiang, Shengju Hao
OBJECTIVE: To analyze the clinical phenotype and genetic basis for a child with acute form of tyrosinemia type I (TYRSN1). METHODS: A child with TYRSN1 who presented at the Gansu Provincial Maternal and Child Health Care Hospital in October 2020 was selected as the subject. The child was subjected to tandem mass spectrometry (MS-MS) and urine gas chromatography-mass spectrometry (GC-MS) for the detection of inherited metabolic disorders, in addition with whole exome sequencing (WES)...
February 10, 2023: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics