Biography
Doctor of medicine, chief physician, master tutor, mainly engaged in the screening, clinical diagnosis and treatment of endocrine genetic diseases and scientific research. In endocrine diseases such as short stature, precocious puberty, adrenal disease, diabetes, thyroid disease and gonadal disease; phenylketonuria, methylmalonic acidemia, propionic acidemia, glutaric acidemia-type I, maple syrup .He has accumulated rich experience in screening, clinical diagnosis, treatment and prenatal diagnosis in terms of genetic metabolic diseases such as , tyrosinemia, primary carnitine deficiency and various acyl-CoA dehydrogenase deficiency. Thousands of people received standardized diagnosis and treatment. It is the first in China to use tandem mass spectrometry technology for newborn screening and clinical patient detection of genetic metabolic diseases, and has been promoted and applied nationwide, enabling early diagnosis and early treatment of thousands of children with genetic metabolic diseases. In-depth clinical and basic research work on methylmalonic acidemia has been carried out, and it has been revealed that cblC patients are the most common in Chinese methylmalonic acidemia patients, accounting for about 75%, of which 99.5 are caused by MMACHC gene mutation, and revealed the severity of the disease in patients with methylmalonic acidemia is related to gene mutation sites. Currently, he is also a member of the expert group of the National Birth Defects Prevention and Control Talent Training Project of the National Health and Health Commission, a member of the quality control expert group of the New Screening Laboratory of the National Health and Health Commission's Clinical Laboratory Center, a member of the Endocrine Genetics and Metabolism Group of the Pediatric Branch of the Chinese Medical Doctor Association, and a member of the Genetics and Genetics of the Chinese Women's and Children's Association. Deputy director of the Metabolic Disease and Vitamin Metabolism Professional Committee and deputy head of the Genetic Metabolism Group of the Children's Disease and Health Care Branch of the China Maternal and Child Health Association. Published 95 papers.
