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
Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.
van de Kamp JM et al.
Journal of Inherited Metabolic Disease, 2012
Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
van de Kamp JM et al.
Clinical Genetics, 2011
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