Cargando…
Treatment experience in two adults with creatinfe transporter deficiency
BACKGROUND: Creatine transporter deficiency (CTD) is an X-linked form of intellectual disability (ID) caused by SCL6A8 mutations. Limited information exists on the adult course of CTD, and there are no treatment studies in adults. METHODS: We report two half-brothers with CTD, 36 and 31 years at int...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7907527/ https://www.ncbi.nlm.nih.gov/pubmed/33665121 http://dx.doi.org/10.1016/j.ymgmr.2021.100731 |