• A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging
• A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism
• A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study
• A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism
• A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report
• Adult-onset, isolated respiratory chain complex-IV deficiency with mild manifestations
• Arginine, glycine, and creatine supplementation improves symptoms in a female with creatine transporter deficiency
• Associations between eating behaviours and cardiometabolic risk among adolescents in the Health Outcomes and Measures of the Environment study
• Breaking the rules of SLC6 transporters: Export of the human creatine transporter-1 from the endoplasmic reticulum is supported by its N-terminus
• CARD9 deficiency promotes pancreatic cancer growth by blocking dendritic cell maturation via SLC6A8-mediated creatine transport
• Carnitine-acylcarnitine translocase deficiency caused by <em>SLC25A20</em> gene heterozygous variants in twins: a case report
• Case report: Clinical and magnetic resonance spectroscopy presentation of a female severely affected with X-linked creatine transporter deficiency
• Case Report: X-Linked Creatine Transporter Deficiency in Two Saudi Brothers with Autism
• Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency
• Cerebral creatine deficiency disorders - A clinical, genetic and follow up study from India
• Cerebral creatine deficiency: Black cat in the coal cellar
• Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation
• Classification of the Molecular Defects Associated with Pathogenic Variants of the <em>SLC6A8</em> Creatine Transporter
• ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
• Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8)
• Cognitive deficits and increases in creatine precursors in a brain-specific knockout of the creatine transporter gene Slc6a8
• Contribution of monocarboxylate transporter 12 to blood supply of creatine on the sinusoidal membrane of the hepatocytes
• Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency"
• Creatine Deficiency Disorders: Phenotypes, Genotypes, Diagnosis, and Treatment Outcomes
• Creatine Deficiency Syndromes: Comparison of Screening Methods and Characterization of Four Novel Intronic Variants
• Creatine metabolism in patients with urea cycle disorders
• Creatine transport and pathological changes in creatine transporter deficient mice
• Creatine transporter deficiency impairs stress adaptation and brain energetics homeostasis
• Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder
• Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder
• Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel <em>SLC6A8</em> Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder
• Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder
• Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability
• Creatine transporter deficiency: Novel mutations and functional studies
• Creatine transporter-deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy
• Current and potential new treatment strategies for creatine deficiency syndromes
• Cyclocreatine Suppresses Creatine Metabolism and Impairs Prostate Cancer Progression
• Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency
• Deciphering neuronal deficit and protein profile changes in human brain organoids from patients with creatine transporter deficiency
• Deletion of the Creatine Transporter (Slc6a8) in Dopaminergic Neurons Leads to Hyperactivity in Mice
• Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis
• Determination of Intrinsic Creatine Transporter (Slc6a8) Activity and Creatine Transport Function of Leukocytes in Rats
• Di-acetyl creatine ethyl ester, a new creatine derivative for the possible treatment of creatine transporter deficiency
• Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review
• Dodecyl creatine ester improves cognitive function and identifies key protein drivers including KIF1A and PLCB1 in a mouse model of creatine transporter deficiency
• Dodecyl creatine ester therapy: from promise to reality
• Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency
• Early Indicators of Creatine Transporter Deficiency
• Effects of Delivering Guanidinoacetic Acid or Its Prodrug to the Neural Tissue: Possible Relevance for Creatine Transporter Deficiency
• Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency
• Elucidation of Disease Mechanisms Based on Transport Function at Tissue Barriers and Challenges in Drug Development
• Epigenetic alterations in creatine transporter deficiency: a new marker for dodecyl creatine ester therapeutic efficacy monitoring
• Evaluation of chronic toxicity of cyclocreatine in beagle dogs after oral gavage administration for up to 23 weeks
• Evaluation of chronic toxicity of cyclocreatine, a creatine analog, in Sprague Dawley rat after oral gavage administration for up to 26 weeks
• Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8
• Facile High-Performance Liquid Chromatography Mass Spectrometry Method for Analysis of Cyclocreatine and Phosphocyclocreatine in Complex Mixtures of Amino Acids
• Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China
• Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts
• GATM and GAMT synthesize creatine locally throughout the mammalian body and within oligodendrocytes of the brain
• Genetic mimics of cerebral palsy
• Guanidinoacetate (GAA) is a potent GABA_A receptor GABA mimetic: Implications for neurological disease pathology
• Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome
• Impedimetric Sensors for Cyclocreatine Phosphate Determination in Plasma Based on Electropolymerized Poly(<em>o</em>-phenylenediamine) Molecularly Imprinted Polymers
• Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention
• Kcnma1 is involved in mitochondrial homeostasis in diabetes-related skeletal muscle atrophy
• Laboratory Diagnosis of Cerebral Creatine Deficiency Syndromes by Determining Creatine and Guanidinoacetate in Plasma and Urine
• Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics
• Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder
• Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study
• Metabolic impairment of non-small cell lung cancers by mitochondrial HSPD1 targeting
• Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism
• Novel translational phenotypes and biomarkers for creatine transporter deficiency
• Oxidative phosphorylation in creatine transporter deficiency
• Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders
• Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts
• Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review
• Probing binding and occlusion of substrate in the human creatine transporter-1 by computation and mutagenesis
• Protection of pancreatic β-cell by phosphocreatine through mitochondrial improvement via the regulation of dual AKT/IRS-1/GSK-3β and STAT3/Cyp-D signaling pathways
• Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus
• Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome
• Rescue of myocytes and locomotion through AAV2/9-2YF intracisternal gene therapy in a rat model of creatine transporter deficiency
• Selective Alteration of the Left Arcuate Fasciculus in Two Patients Affected by Creatine Transporter Deficiency
• Sex differences in the involvement of skeletal and cardiac muscles in myopathic <em>Ano5^-/-</em> mice
• Simultaneous loss of TSC1 and DEPDC5 in skeletal and cardiac muscles produces early-onset myopathy and cardiac dysfunction associated with oxidative damage and SQSTM1/p62 accumulation
• SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population
• SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations
• Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism
• The Concept of Folic Acid in Health and Disease
• The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome
• The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development
• Treatment efficacy of high-dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency
• Treatment experience in two adults with creatinfe transporter deficiency
• Treatment outcome of creatine transporter deficiency: international retrospective cohort study
• Urine creatine metabolite panel as a screening test in neurodevelopmental disorders
• Use of an animal model of disease for toxicology enables identification of a juvenile no observed adverse effect level for cyclocreatine in creatine transporter deficiency
• Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder
• Variable clinical severity in TANGO2 deficiency: Case series and literature review
• Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity
• X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease
• X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model