Area of research
Clinical Biochemistry · Rheumatology
Research interest
Research interests include Metabolism and Genetic Disorders, Folate and B Vitamins Research, Platelet Disorders and Treatments, and Blood groups and transfusion.
[Clinical and genetic studies on 76 patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria].
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia