Associated Papers
Arginine, glycine, and creatine supplementation improves symptoms in a female with creatine transporter deficiency.
Tauer K et al.
Psychiatric Genetics, 2024
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
Phenotypic variability in a portuguese family with x-linked creatine transport deficiency.
Garcia P et al.
Pediatric Neurology, 2012
[Cerebral creatine deficiency syndromes].
Malheiro R et al.
Acta Medica Portuguesa, 0
Select a paper to view details