CCDS Research Paper Repository

We’ve curated a list of scientific articles about CCDS. You can navigate the list by using the search and filter functions in the left column. A Parent Summary is included with many of the articles. When available, a link to the full article is included. If the full article is not available, you may consider looking on PubMed Central, using ResearchGate, or emailing the corresponding author to request access.

If you would like to suggest a paper for inclusion, or a Parent Summary for a particle article, email us at research@creatineinfo.org.

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Guanidinoacetate methyltransferase deficiency, a treatable cause of intellectual disability in late childhood
January 24, 2026
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A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency
January 20, 2026
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GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments
November 21, 2025
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Longitudinal Characterization of Males with X-Linked Creatine Transporter Deficiency: Final Results of a Multi-Year Observational Study
October 30, 2025
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SLC6A8-mediated creatine uptake suppresses ERK2-FSP1 signaling and induces ferroptosis in colorectal cancer
September 1, 2025
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Cerebral Creatine Deficiency Syndrome due to GAMT Deficiency - Importance of Meticulous Developmental Screening: A Case Report
August 13, 2025
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Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency
August 7, 2025
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Hypoxia-Induced Creatine Uptake Reprograms Metabolism to Antagonize PARP1-Mediated Cell Death and Facilitate Tumor Progression in Hepatocellular Carcinoma
July 31, 2025
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Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts
July 23, 2025
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Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT)
July 21, 2025
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Life-long creatine deficiency leads to augmented sarcoplasmic reticulum calcium release but not heart failure
July 18, 2025
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Creatine monohydrate supplementation for older adults and clinical populations
July 17, 2025
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Epilepsy expands the phenotype of L-arginine:glycine amidinotransferase deficiency
July 17, 2025
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Intranasal delivery of dodecyl creatine ester alleviates motor deficits and increases dopamine levels in a 6-OHDA rat model of parkinsonism
July 10, 2025
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An international questionnaire highlights and supports the case for including girls in Creatine Transporter Deficiency research
July 6, 2025
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Phenylbutyrate for Monogenetic Epilepsy: Literature Review
July 1, 2025
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Targeting Creatine and Creatine Kinase in Cancer: Exploring Potential Therapeutic Strategies
June 24, 2025
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Cerebral Creatine Deficiency Affects the Timing of Oligodendrocyte Myelination
June 22, 2025
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Dynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case series
June 21, 2025
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Unifying perspectives on the activity and genotypic targeting of pharmacological chaperones
June 18, 2025
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Creatine Deficiency Disorders
June 10, 2025
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Teaching NeuroImage: A 6-Month-Old Boy With Arginine-Glycine Amidinotransferase Deficiency
June 10, 2025
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Recent developments in translational imaging of in vivo gene therapy outcomes
June 4, 2025
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Creatine metabolism in psychosis and catatonia: A case report and review of the literature
June 1, 2025
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Ineffectiveness of creatine, glycine, and arginine supplementation in a female with creatine transporter deficiency: A case report
May 26, 2025
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Creatine mitigates neurogenesis impairment caused by defective DcpS decapping
May 23, 2025
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Teaching NeuroImage: Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
May 21, 2025
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Reconstitution of Methionine Cycle With ATP Regeneration for Whole‐Cell Catalysis of Creatine Production in Engineered Escherichia coli
May 21, 2025
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Design of a Continuous GAA-Producing Probiotic as a Potential Mitigator of the Effects of Sleep Deprivation
May 16, 2025
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Child Neurology: Creatine Biosynthesis Disorder in an Adolescent With Capgras Syndrome and Reduplicative Paramnesia
May 13, 2025
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Gene delivery of AGAT and GAMT boosts creatine levels in creatine transporter deficiency patient fibroblasts
May 8, 2025
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Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency
May 5, 2025
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Transport and inhibition mechanisms of human creatine transporter
May 5, 2025
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Focal epilepsy with sensory seizures associated with arginine:glycine amidinotransferase deficiency: A clinical and advanced magnetic resonance imaging study
May 5, 2025
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Heterozygous females from a rat model for creatine transporter deficiency reveal altered behavioral response to stressors, normal body weight and slight metabolic changes
April 28, 2025
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Evaluation of SLC6A8 Species Conservation and the Effect of Pathogenic Variants on Creatine Transport
April 6, 2025
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Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
March 23, 2025
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Two Cases of Creatine Deficiency Syndrome Caused by GAMT Gene Mutations and Literature Review
March 15, 2025
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FDG-PET and [18F]MPPF-PET are brain biomarkers for the creatine transporter Slc6a8 loss of function mutation
March 1, 2025
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How a patient-led advocacy organization supports the road to diagnosis and treatment of creatine transporter deficiency
February 25, 2025
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Dodecyl creatine ester, a promising treatment to deliver creatine to neurons for CTD
February 15, 2025
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Creatine transporter (SLC6A8) knockout mice exhibit reduced muscle performance, disrupted mitochondrial Ca2+ homeostasis, and severe muscle atrophy
February 14, 2025
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Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023
January 22, 2025
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Autism spectrum disorder and inherited metabolic diseases: are there any common features?
January 2, 2025
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Identification of disulfidptosis-related subtypes in gastric cancer and GAMT is a key gene during disulfidptosis
January 2, 2025
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Part II. Common questions and misconceptions about creatine supplementation: what does the scientific evidence really show?
December 25, 2024
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A creatine efflux transporter in oligodendrocytes
December 19, 2024
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Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study
December 18, 2024
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Inherited metabolic epilepsies–established diseases, new approaches
December 18, 2024
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Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report
December 16, 2024
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Magnetic resonance spectroscopy as a diagnostic tool in cerebral creatine deficiency syndrome 3
December 12, 2024
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Validation and Optimization of a Stable Isotope-Labeled Substrate Assay for Measuring AGAT Activity
November 21, 2024
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Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency
October 17, 2024
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Targeting AGAT gene expression - a drug screening approach for the treatment of GAMT deficiency
October 15, 2024
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Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8
October 12, 2024
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Fusogenic Liposomes for the Intracellular Delivery of Phosphocreatine
October 10, 2024
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Targeting AGAT gene expression – a drug screening approach for the treatment of GAMT deficiency
June 21, 2024
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Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8)
April 23, 2024
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SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations
March 24, 2024
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Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8
January 21, 2024
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Long term follow-up in GAMT deficiency - Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data
January 18, 2024
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Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells
December 16, 2023
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Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with CTD
December 1, 2023
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Deciphering neuronal deficit and protein profile changes in human brain organoids from patients with creatine transporter deficiency
October 13, 2023
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Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation
September 15, 2023
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Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China
May 11, 2023
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2023: Prevalence and treatment of GAMT deficiency and CTD at the Children’s Hospital of Fudan University (Shanghai, China)
May 11, 2023
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Outcomes and treatment of GAMT deficiency in 1 child in Syria
April 11, 2023
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Novel guanidinoacetate methyltransferase (GAMT) mutation associated with cerebral creatine deficiency syndrome in a Syrian child: a case report
April 11, 2023
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Dodecyl creatine ester improves cognition in mouse model of CTD
March 23, 2023
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Creatine, arginine, and glycine supplementation linked to improvement in CTD case with novel SLC6A8 variant
February 8, 2023
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Guanidinoacetate (GAA) is a potent GABAA receptor GABA mimetic: Implications for neurological disease pathology
February 1, 2023
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A Novel Variation of GAMT in Cerebral Creatine Deficiency Syndrome, First Complete Homozygous Deletion of GAMT
January 1, 2023
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Pain research and children and adolescents with severe intellectual disability: ethical challenges and imperatives
December 20, 2022
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Novel genetic variations in the SLC6A8 and GAMT genes
July 1, 2022
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Cerebral creatine deficiency disorders – A clinical, genetic and follow up study from India
April 1, 2022
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Creatine Deficiency Disorders
February 10, 2022
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Treatment strategies for CCDS and the potential for new treatments for CTD
January 1, 2022
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Biochemical diagnostic criteria for CCDS may need to be adjusted depending on the patient’s age at time of diagnosis
January 1, 2022
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Current and potential new treatment strategies for creatine deficiency syndromes
January 1, 2022
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Intellectual disability, speech delay, behavior issues, autism, and constipation as common outcomes in patients with GAMT deficiency or CTD
December 30, 2021
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X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model
October 1, 2021
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Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency
September 1, 2021
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Creatine supplementation in 5-year-old linked to greater muscle mass, strength, and coordination
March 3, 2021
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Treatment experience in two adults with creatine transporter deficiency
February 22, 2021
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Oxidative phosphorylation in creatine transporter deficiency
January 1, 2021
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The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome
October 22, 2020
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Developments in evidence creation for treatments of inborn errors of metabolism
October 4, 2020
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Cerebral Creatine Deficiency: Black cat in the coal celler
July 17, 2020
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Novel translational phenotypes and biomarkers for creatine transporter deficiency
July 3, 2020
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Studies of structural determinants of substrate binding in the Creatine Transporter (CreaT, SLC6A8) using molecular models
April 10, 2020
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Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter
March 24, 2020
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Magnetic resonance imaging reveals specific anatomical changes in the brain of AGAT- and GAMT-mice attributed to creatine depletion and guanidinoacetate alteration
January 17, 2020
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Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome
March 15, 2019
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Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency
January 1, 2019
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Treatment outcome of creatine transporter deficiency: international retrospective cohort study
June 1, 2018
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Recommended updates to screening protocols that evaluate variations in creatine transporter function
April 1, 2018
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Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts
February 16, 2018
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Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study
February 12, 2018
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Di-acetyl creatine ethyl ester, a new creatine derivative for the possible treatment of creatine transporter deficiency
February 5, 2018
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Di-acetyl creatine ethyl ester, a new creatine derivative for the possible treatment of creatine transporter deficiency
February 5, 2018
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Cell-Type-Specific Spatiotemporal Expression of Creatine Biosynthetic Enzyme S-adenosylmethionine:guanidinoacetate N-methyltransferase in Developing Mouse Brain
February 1, 2018
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A Novel Method to Synthesize Phosphocreatine and Phosphocreatine Prodrugs
October 17, 2017
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Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis
February 21, 2017
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Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics
February 1, 2017
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Astrocytic g-aminobutyric acid (GABA) transporters mediate guanidinoacetate transport in rat brain
February 1, 2017
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SLC6 Transport Folding Diseases and Pharmacochaperoning
January 1, 2017
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Creatine: a miserable life without it
July 15, 2016
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Systematic availability of guanidinoacetate affects GABA receptor function and seizure threshold in GAMT deficient mice
February 22, 2016
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Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?
January 27, 2016
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Creatine for neuroprotection in neurodegenerative disease: end of story?
January 9, 2016
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Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene
May 24, 2015
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Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes
March 1, 2015
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Effect of creatine monohydrate on clinical progression in patients with Parkinson disease: a randomized clinical trial
February 10, 2015
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Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
September 1, 2014
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Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases
August 1, 2014
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Case Study for the Evaluation of Current Treatment Recommendations of Guanidinoacetate Methyltransferase Deficiency: Ineffectiveness of Sodium Benzoate
July 1, 2014
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Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases
May 19, 2014
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Newborn screening for guanidinoacetate methyl transferase deficiency
January 15, 2014
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Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene
January 10, 2014
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Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency
November 26, 2013
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Evidence-Based Treatment of Guanidinoacetate Methyltransferase (GAMT) Deficiency
August 31, 2013
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Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes
July 1, 2013
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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
April 9, 2013
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Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency
March 16, 2013
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Creatine deficiency syndromes
January 1, 2013
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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
December 13, 2012
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Creatine protects against excitoxicity in an in vitro model of neurodegeneration
February 8, 2012
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Detection of variants in SLC6A8 and functional analysis of unclassified missense variants
January 6, 2012
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Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT Deficiency
January 1, 2012
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The creatine kinase system and pleiotropic effects of creatine
March 30, 2011
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Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency
November 1, 2009
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Secondary creatine deficiency in ornithine delta-aminotransferase deficiency
March 31, 2009
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Low Creatinine: The Diagnostic Clue for a Treatable Neurologic Disorder
March 3, 2009
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Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency
January 1, 2009
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Enzymes of creatine biosynthesis, arginine and methioninemetabolism in normal and malignant cells
September 30, 2008
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Long-term creatine supplementation is safe in aged patients with Parkinson disease
January 10, 2008
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Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application
April 26, 2007
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Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy
February 1, 2007
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Cerebral Creatine Deficiency Syndromes: Clinical Aspects, Treatment and Pathophysiology
January 1, 2007
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Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts
December 1, 2006
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Creatine supplementation in Parkinson disease: a placebo-controlled randomized pilot trial
October 9, 2006
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Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency
August 22, 2006
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GAMT deficiency: Features, treatment, and outcome in an inborn error of creatine synthesis
July 19, 2006
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X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology
April 26, 2006
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Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts
April 1, 2006
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Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation
March 1, 2005
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Biochemical and clinical characteristics of creatine deficiency syndromes
October 26, 2004
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Creatine supplementation lowers brain glutamate levels in Huntington's disease
June 23, 2004
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HPLC assay for guanidinoacetate methyltransferase
June 8, 2004