Publications by authors named "Kai-Chuang Zhang"
World J Pediatr
August 2024
Article Synopsis
- - The study focused on understanding the effects of the MMACHC c.482G > A mutation linked to CblC disease in 195 Chinese patients, analyzing their clinical features and outcomes over a median follow-up of nearly 4 years.
- - It was found that 64.1% of patients were identified through newborn screening, with a significant portion remaining asymptomatic, while symptomatic cases showed a later onset of symptoms such as developmental delays and cognitive issues.
- - In comparison, 159 symptomatic patients without the c.482G > A mutation exhibited different clinical manifestations, highlighting variations in disease presentation depending on the specific genetic mutation.
