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...

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Detalles Bibliográficos
Autores principales: Schjelderup, Jack, Hope, Sigrun, Vatshelle, Christian, van Karnebeek, Clara D.M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
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

Internet

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

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