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 of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.
Dunbar M et al.
Molecular Genetics and Metabolism, 2014
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
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.
Betsalel OT et al.
European Journal of Human Genetics : Ejhg, 2011
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
Clark AJ et al.
Human Genetics, 2006
Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.
Mancini GM et al.
American Journal of Medical Genetics. Part A, 2005
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