Associated Papers
Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.
Delinière A et al.
Heart Rhythm, 2026
Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review.
Li J et al.
Brain Sciences, 2023
37891751 (PubMed )
Supplement: brainsci-13-01382-s001.zip › brainsci-2561128-supplementary.pdf
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
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
Cheillan D et al.
Orphanet Journal of Rare Diseases, 2012
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
[Cerebral creatine deficiency syndromes].
Malheiro R et al.
Acta Medica Portuguesa, 0
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