Associated Papers
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
Mejdahl Nielsen M et al.
Molecular Genetics and Metabolism, 2023
Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.
Heussinger N et al.
Pediatric Neurology, 2017
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
Rosenberg EH et al.
American Journal of Human Genetics, 2004
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