Molybdenum Cofactor Deficiency Presenting as Neonatal Hyperekplexia: A Clinical, Biochemical and Genetic Study - Macaya, A; Brunso, L; Fernández-Castillo, N; Arranz, J A; Ginjaar, H B; Cuenca-León, E; Corominas, R; Roig, M; Cormand, B (Neuropediatrics, 2005)