Associated Papers
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
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Farr CV et al.
Frontiers in Synaptic Neuroscience, 2020
Defining the pathogenicity of creatine deficiency syndrome.
Alcaide P et al.
Human Mutation, 2011
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.
Sempere A et al.
Journal of Inherited Metabolic Disease, 2010
Creatine transporter deficiency in two adult patients with static encephalopathy.
Sempere A et al.
Journal of Inherited Metabolic Disease, 2009
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