Pediatría
Departamento
Centre Hospitalier Universitaire de Nancy
Nancy, FranciaPublicaciones en colaboración con investigadoras/es de Centre Hospitalier Universitaire de Nancy (2)
2020
-
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Human Mutation, Vol. 41, Núm. 4, pp. 837-849
2019
-
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
Molecular Genetics and Metabolism, Vol. 127, Núm. 1, pp. 1-11