Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
Paroxysmal Extreme Pain Disorder (Previously Familial Rectal Pain Syndrome)
Neurol 69:586-595, Fertleman,C.R.,et al, 2007
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988