Publications by authors named "Haiping Ning"
Article Synopsis
- * A 13-year-old Chinese girl with OI presented specific symptoms including non-union fractures and distinctive skeletal features, leading to the discovery of a novel homozygous variant in the CCDC134 gene through whole exome sequencing.
- * This case marks the first identification of OI 22 in a Chinese patient and adds to the understanding of OI 22's clinical characteristics globally, highlighting a unique genetic variant's role in the disease.
[Analysis of IVD gene variants in four children with isovalerate acidemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2022
Objective: To detect variants of IVD gene among 4 neonates with suspected isovalerate acidemia in order to provide a guidance for clinical treatment.
Methods: 111 986 newborns and 7461 hospitalized children with suspected metabolic disorders were screened for acyl carnitine by tandem mass spectrometry. Those showing a significant increase in serum isovaleryl carnitine (C5) were analyzed for urinary organic acid and variants of the IVD gene.
Inborn errors of metabolism (IEMs) often causing progressive and irreversible neurological damage, physical and intellectual development lag or even death, and serious harm to the family and society. The screening of neonatal IEMs by tandem mass spectrometry (MS/MS) is an effective method for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. A total of 111,986 healthy newborns and 7,461 hospitalized high-risk infants were screened for IEMs using MS/MS to understand the characteristics of IEMs and related gene mutations in newborns and high-risk infants in Liuzhou.
View Article and Find Full Text PDF