Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8

Autor: Longo, Nicola, Voss, Laura Alane, Frigeni, Marta, Balakrishnan, Bijina, Pasquali, Marzia
Zdroj: In Molecular Genetics and Metabolism November 2024 143(3)
Databáze: ScienceDirect