1. Molecular picture of cobalamin C/D defects before and after newborn screening era. (March 2017) Authors: Nogueira, C; Marcão, A; Rocha, H; Sousa, C; Fonseca, H; Valongo, C; Vilarinho, L Journal: Journal of medical screening Issue: Volume 24:Number 1(2017) Page Start: 6 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗