... We present an 11-year-old girl with sudden, severe, sequential optic neuropathy. Investigations revealed severe vitamin B12 deficiency, and identified a novel mitochondrial ND5 variant. She was treated with steroids followed by plasma exchange, but ...
http://www.citeulike.org/user/rebekahthorn/article/12272445
http://www.citeulike.org/user/rebekahthorn/article/12272445
