Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder

por Tise, Christina G., Palma, Melinda J., Cusmano-Ozog, Kristina P., Matalon, Dena R.
Publicado 2023