Endocrinología, Diabetes, Nutrición, Alteraciones Renales y Salud Infantil
Telethon Institute Of Genetics And Medicine
Nápoles, ItaliaPublicaciones en colaboración con investigadores/as de Telethon Institute Of Genetics And Medicine (3)
2024
-
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
Orphanet Journal of Rare Diseases , Vol. 19, Núm. 1
2021
-
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
-
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1