1. Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency. Issue 1 (December 2015) Authors: Ruiz-Ortiz, E; Gonzalez-Roca, E; Mensa-Vilaro, A; Rius, J; Plaza, S; Anton, C; Calvo, I; Modesto, C; Anton, J; Arnal, C; Alvarez, C; Alvarez-Coca, J; Becerra, E; Bilbao, N; Camacho, M; Crespo, J; de Diego, C; Diez-Garcia, LF; Espinosa, L; Garcia-Escriva, D Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency. Issue 1 (December 2015) Authors: Ruiz-Ortiz, E; Gonzalez-Roca, E; Mensa-Vilaro, A; Rius, J; Plaza, S; Anton, C; Calvo, I; Modesto, C; Anton, J; Arnal, C; Alvarez, C; Alvarez-Coca, J; Becerra, E; Bilbao, N; Camacho, M; Crespo, J; de Diego, C; Diez-Garcia, LF; Espinosa, L; Garcia-Escriva, D Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia. Issue 5 (1st May 1999) Authors: Muro, S; Pérez-Cerdá, C; Rodríguez-Pombo, P; Pérez, B; Briones, P; Ribes, A; Ugarte, M Journal: Journal of medical genetics Issue: Volume 36:Issue 5(1999) Page Start: 412 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. Issue 7 (3rd May 2013) Authors: van de Kamp, J M; Betsalel, O T; Mercimek-Mahmutoglu, S; Abulhoul, L; Grünewald, S; Anselm, I; Azzouz, H; Bratkovic, D; de Brouwer, A; Hamel, B; Kleefstra, T; Yntema, H; Campistol, J; Vilaseca, M A; Cheillan, D; D'Hooghe, M; Diogo, L; Garcia, P; Valongo, C; Fonseca, M Journal: Journal of medical genetics Issue: Volume 50:Issue 7(2013) Page Start: 463 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗