X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
Mejdahl Nielsen M, Petersen ET, Fenger CD, Ørngreen MC, Siebner HR, Boer VO, Považan M, Lund A, Grønborg SW, Hammer TB.
Mejdahl Nielsen M, et al.
Mol Genet Metab. 2023 Nov;140(3):107694. doi: 10.1016/j.ymgme.2023.107694. Epub 2023 Aug 30.
Mol Genet Metab. 2023.
PMID: 37708665
Free article.
Review.
Creatine transporter deficiency (CTD), caused by pathogenic variants in SLC6A8, is the second most common cause of X-linked intellectual disability. ...
Creatine transporter deficiency (CTD), caused by pathogenic variants in SLC6A8, is the second most common cause of X-li …