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
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
Lyons EL et al.
Bmc Genomics, 2023
37587458 (PubMed )
Supplement: 12864_2023_9561_MOESM1_ESM.xlsx › CuratedVariants
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
Valayannopoulos V et al.
Journal of Inherited Metabolic Disease, 2012
Select a paper to view details