Associated Papers
Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT).
Yuan X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Trio Exome Sequencing in VACTERL Association.
Ćomić J et al.
Kidney International Reports, 2025
Efficacy of creatine supplementation in a patient with epilepsy with SLC6A8 gene mutations.
Zhang Y et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea.
Han JY et al.
Biomedicines, 2024
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
Abdennadher M et al.
American Journal of Medical Genetics. Part A, 2024
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".
Rahhal S et al.
Molecular Genetics and Metabolism Reports, 2023
Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review.
Li J et al.
Brain Sciences, 2023
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
Lyons EL et al.
Bmc Genomics, 2023
Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China.
Sun W et al.
Translational Pediatrics, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.
Levin MD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Treatment efficacy of high-dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency.
Shi K et al.
Molecular Genetics & Genomic Medicine, 2021
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Farr CV et al.
Frontiers in Synaptic Neuroscience, 2020
Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder.
Aydin HI
Indian Pediatrics, 2018
Creatine transporter deficiency: Novel mutations and functional studies.
Ardon O et al.
Molecular Genetics and Metabolism Reports, 2016
Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
DesRoches CL et al.
Gene, 2015
RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.
Nota B et al.
Human Mutation, 2014
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
van de Kamp JM et al.
Journal of Medical Genetics, 2013
[Advances in studies on cerebral creatine deficiency syndrome].
Sun WH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
Arias A et al.
Clinical Biochemistry, 2007
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
Stockler S et al.
Sub-cellular Biochemistry, 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
X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.
Póo-Argüelles P et al.
Journal of Inherited Metabolic Disease, 2006
Laboratory diagnosis of defects of creatine biosynthesis and transport.
Verhoeven NM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005
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
[Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease].
Campistol J et al.
Revista De Neurologia, 0