Search

Author/Creator Pintos, Guillem

1. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain. Issue 39 (September 2019)

Authors:
Couce, María Luz; Sánchez-Pintos, Paula; Aldámiz-Echevarría, Luís; Vitoria, Isidro; Navas, Victor; Martín-Hernández, Elena; García-Volpe, Camila; Pintos, Guillem; Peña-Quintana, Luis; Hernández, Tomás; Gil, David; Sánchez-Valverde, Félix; Bueno, María; Roca, Iria; López-Ruzafa, Encarna; Díaz-Fern...
Other Names:
Tarantino. Giovanni section editor.
Journal:
Medicine
Issue:
Volume 98:Issue 39(2019)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules. Issue 2 (12th December 2019)

Authors:
Castellanos, Elisabeth; Rosas, Inma; Negro, Alex; Gel, Bernat; Alibés, Andreu; Baena, Neus; Pineda, Mercè; Pi, Graciela; Pintos, Guillem; Salvador, Hector; Lázaro, Conxi; Blanco, Ignacio; Vilageliu, Lluïsa; Brems, Hilde; Grinberg, Daniel; Legius, Eric; Serra, Eduard
Journal:
Clinical genetics
Issue:
Volume 97:Issue 2(2020)
Page Start:
264
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

Limit your search