Associated Papers
Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report.
Borrell-Pichot M et al.
Epilepsia Open, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
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
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.
Kamil G et al.
Orphanet Journal of Rare Diseases, 2021
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
Cheillan D et al.
Orphanet Journal of Rare Diseases, 2012
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
Arias A et al.
Clinical Biochemistry, 2007
[Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease].
Campistol J et al.
Revista De Neurologia, 0
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