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

• Glavni autori: Christina G. Tise MD, PhD (Autor), Melinda J. Palma MD (Autor), Kristina P. Cusmano-Ozog MD (Autor), Dena R. Matalon MD (Autor)
• Format: Knjiga
• Izdano: SAGE Publishing, 2023-02-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Cerebral creatine deficiency syndromes (CCDS) are a rare group of inherited metabolic disorders (IMDs) that often present with nonspecific findings including global developmental delay (GDD), intellectual disability (ID), seizures, hypotonia, and behavioral differences. Creatine transporter (CRTR) d...