1. Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. Issue 6 (19th March 2009) Authors: Espinós, C; Pineda, M; Martínez-Rubio, D; Lupo, V; Ormazabal, A; Vilaseca, M A; Spaapen, L J M; Palau, F; Artuch, R Journal: Journal of medical genetics Issue: Volume 46:Issue 6(2009) Page Start: 407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation. Issue 11 (15th April 2016) Authors: Frasquet, M; Chumillas, M J; Vílchez, J J; Márquez-Infante, C; Palau, F; Vázquez-Costa, J F; Lupo, V; Espinós, C; Sevilla, T Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87:Issue 11(2016) Page Start: 1265 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗