Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989
Gyrate Atrophy of the Choroid & Retina with Hyperornithinemia:Tubular Aggreg. & Type 2 Fiber Atrophy
Neurol 29:966, Sipila,I.,et al, 1979
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Paraneoplastic Syndromes Involving the Eyes
In Walsh & Hoyt's Clin Neuro-ophthal, 4th ed, Williams & Wilkins, Vol 3, p 1735-1746, Miller,N.R., 1988
Celiac Sprue & Refractory Sprue
Gastroenter. 75:3071978., Trier,J.S.,et al, 1978