Sofía
Barbosa Gouveia
Hospital Clinic Barcelona
Barcelona, EspañaPublications in collaboration with researchers from Hospital Clinic Barcelona (3)
2024
2019
-
Newborn screening for homocystinurias: Recent recommendations versus current practice
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139
2014
-
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1