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
Case report: Clinical and magnetic resonance spectroscopy presentation of a female severely affected with X-linked creatine transporter deficiency.
Morey K et al.
Radiology Case Reports, 2022
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Farr CV et al.
Frontiers in Synaptic Neuroscience, 2020
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 2019
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Rosenberg EH et al.
Human Mutation, 2007
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
Clark AJ et al.
Human Genetics, 2006
Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.
Kleefstra T et al.
Clinical Genetics, 2005
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T et al.
Clinical Genetics, 2005
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
Rosenberg EH et al.
American Journal of Human Genetics, 2004
X-linked mental retardation (XLMR): from clinical conditions to cloned genes.
Chiurazzi P et al.
Critical Reviews in Clinical Laboratory Sciences, 2004
X-linked creatine transporter defect: an overview.
Salomons GS et al.
Journal of Inherited Metabolic Disease, 2003
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
Hahn KA et al.
American Journal of Human Genetics, 2002
Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency.
Cecil KM et al.
Journal of Computer Assisted Tomography, 0
Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.
Rosenberg EH et al.
Journal of Inherited Metabolic Disease, 0