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X-linked creatine deficiency: MedlinePlus Genetics
X-linked creatine deficiency: MedlinePlus Genetics

Mitochondrial disease in children - Rahman - 2020 - Journal of Internal Medicine - Wiley Online Library
Mitochondrial disease in children - Rahman - 2020 - Journal of Internal Medicine - Wiley Online Library

Current and potential new treatment strategies for creatine deficiency syndromes - ScienceDirect
Current and potential new treatment strategies for creatine deficiency syndromes - ScienceDirect

Creatine Transporter Deficiency-one of the 3 CCDS – CTD Disease Resources for Patients and Healthcare Providers
Creatine Transporter Deficiency-one of the 3 CCDS – CTD Disease Resources for Patients and Healthcare Providers

Creatine Deficiency Disorders - GeneReviews® - NCBI Bookshelf
Creatine Deficiency Disorders - GeneReviews® - NCBI Bookshelf

1 Comparison of symptoms in creatine deficiency syndromes GAMT AGAT CrT | Download Table
1 Comparison of symptoms in creatine deficiency syndromes GAMT AGAT CrT | Download Table

Creatine and Creatine Deficiency Syndromes: Biochemical and Clinical Aspects - Pediatric Neurology
Creatine and Creatine Deficiency Syndromes: Biochemical and Clinical Aspects - Pediatric Neurology

Creatine Transporter Deficiency-one of the 3 CCDS – CTD Disease Resources for Patients and Healthcare Providers
Creatine Transporter Deficiency-one of the 3 CCDS – CTD Disease Resources for Patients and Healthcare Providers

Genetic disease treatment research for creatine deficiency
Genetic disease treatment research for creatine deficiency

Creatine Transporter Deficiency-one of the 3 CCDS – CTD Disease Resources for Patients and Healthcare Providers
Creatine Transporter Deficiency-one of the 3 CCDS – CTD Disease Resources for Patients and Healthcare Providers

Fig 4. | Treatment Monitoring of Brain Creatine Deficiency Syndromes: A 1H- and 31P-MR Spectroscopy Study | American Journal of Neuroradiology
Fig 4. | Treatment Monitoring of Brain Creatine Deficiency Syndromes: A 1H- and 31P-MR Spectroscopy Study | American Journal of Neuroradiology

X-Linked Creatine Deficiency Disorder
X-Linked Creatine Deficiency Disorder

Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes | Pediatric Research
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes | Pediatric Research

Creatine Transporter Deficiency-one of the 3 CCDS – CTD Disease Resources for Patients and Healthcare Providers
Creatine Transporter Deficiency-one of the 3 CCDS – CTD Disease Resources for Patients and Healthcare Providers

Current and potential new treatment strategies for creatine deficiency syndromes - ScienceDirect
Current and potential new treatment strategies for creatine deficiency syndromes - ScienceDirect

Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome - ScienceDirect
Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome - ScienceDirect

Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes | Pediatric Research
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes | Pediatric Research

Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes | Pediatric Research
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes | Pediatric Research

ScreenCreatine: A visual guide to CCDS – Creatine Transporter Deficiency-one of the 3 CCDS
ScreenCreatine: A visual guide to CCDS – Creatine Transporter Deficiency-one of the 3 CCDS

Frontiers | The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome
Frontiers | The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome

Treatment Monitoring of Brain Creatine Deficiency Syndromes: A 1H- and 31P-MR Spectroscopy Study | American Journal of Neuroradiology
Treatment Monitoring of Brain Creatine Deficiency Syndromes: A 1H- and 31P-MR Spectroscopy Study | American Journal of Neuroradiology

Brain mitochondrial proteome alteration driven by creatine deficiency suggests novel therapeutic venues for creatine deficiency syndromes - ScienceDirect
Brain mitochondrial proteome alteration driven by creatine deficiency suggests novel therapeutic venues for creatine deficiency syndromes - ScienceDirect

Figure 3 | Genomics and Radiogenomics in Inherited Neurometabolic Disorders – A Practical Primer for Pediatricians | SpringerLink
Figure 3 | Genomics and Radiogenomics in Inherited Neurometabolic Disorders – A Practical Primer for Pediatricians | SpringerLink