Publications by authors named "Shi-Ying Ling"
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.
Neuronavigation-assisted endoscopic unilateral cyst fenestration for treatment of symptomatic septum pellucidum cysts.
J Neurol Surg A Cent Eur Neurosurg
July 2013
Background: Traditional surgical treatments for this rare disease include open surgical procedures and ventriculoperitoneal shunting. In 1995, endoscopic fenestration was first applied to treatment of cysts of the septum pellucidum (CSP). However, cyst fenestration generally takes a bilateral approach by making two burr holes leading to two fenestrations in the lateral walls of the cyst.
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