Ophthalmic manifestations of methylmalonic aciduria accompanied with homocystinuria

Ophthalmic manifestations of methylmalonic aciduria accompanied with homocystinuria

Methylmalonicaciduia(MMA)accompanied with homocystinuria is a rare autosomal-recessive with congenital metabolic disorder of Vitamin B12. There are three subtypes, cblC, cblD, cblF, in which cblC is the most common one. The diagnostic tests are tandem mass spectrometry and gas chromatography-mass sp...

Full description

Bibliographic Details
Main Authors: Qiu-Jing Huang, Qi Zhang, Jie Peng, Yi-An Li, Pei-Quan Zhao
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2015-12-01
Series:Guoji Yanke Zazhi
Subjects:
methylmalonic aciduria
homocystinuria
retinopathy
nystagmus
strabismus
Online Access:http://ies.ijo.cn/cn_publish/2015/12/201512017.pdf

Internet

http://ies.ijo.cn/cn_publish/2015/12/201512017.pdf

Similar Items