Associated Papers
Arginine, glycine, and creatine supplementation improves symptoms in a female with creatine transporter deficiency.
Tauer K et al.
Psychiatric Genetics, 2024
Molecular Mechanism of SLC6A8 Dysfunction with c.1699T > C (p.S567P) Mutation in Cerebral Creatine Deficiency Syndromes.
Jomura R et al.
Biological & Pharmaceutical Bulletin, 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
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
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.
Bahl S et al.
Orphanet Journal of Rare Diseases, 2020
33267903 (PubMed )
Supplement: 13023_2020_1617_MOESM1_ESM.docx
Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter.
Salazar MD et al.
Biochemistry, 2020
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Farr CV et al.
Frontiers in Synaptic Neuroscience, 2020
Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
Bruun TUJ et al.
Metabolic Brain Disease, 2018
SLC6 Transporter Folding Diseases and Pharmacochaperoning.
Freissmuth M et al.
Handbook of Experimental Pharmacology, 2018
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
Treatment of intractable epilepsy in a female with SLC6A8 deficiency.
Mercimek-Mahmutoglu S et al.
Molecular Genetics and Metabolism, 2010
A rational free energy-based approach to understanding and targeting disease-causing missense mutations.
Zhang Z et al.
Journal of the American Medical Informatics Association : Jamia, 0
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