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

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...

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Detalles Bibliográficos
Autores principales: Tise, Christina G., Palma, Melinda J., Cusmano-Ozog, Kristina P., Matalon, Dena R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9909053/
https://www.ncbi.nlm.nih.gov/pubmed/36752093
http://dx.doi.org/10.1177/23247096231154438

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9909053/
https://www.ncbi.nlm.nih.gov/pubmed/36752093
http://dx.doi.org/10.1177/23247096231154438

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