The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.

Yoo-Mi KimJin-Ho ChoiGu-Hwan KimYoung Bae SohnJung Min KoBeom Hee LeeChong Kun CheonHan Hyuk LimSun-Hee HeoHan Wook Yoo

Published in: Orphanet journal of rare diseases (2020)

The GBA p.G85E mutation, which appears to be neuroprotective despite producing distinctive visceromegaly and skeletal symptoms, exhibited a potential founder effect in Korean GD patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
patient reported