Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases

This publication has 29 references indexed in Scilit:

• New insights into creatine transporter deficiency: the importance of recycling creatine in the brain
  Journal of Inherited Metabolic Disease, 2012
• Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency
  Journal of Clinical Investigation, 2012
• Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency
  Orphanet Journal of Rare Diseases, 2012
• Treatment by oral creatine, L‐arginine and L‐glycine in six severely affected patients with creatine transporter defect
  Journal of Inherited Metabolic Disease, 2011
• Creatine deficiency syndromes and the importance of creatine synthesis in the brain
  Amino Acids, 2011
• Disorders of creatine transport and metabolism
  American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2011
• Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency
  Molecular Genetics and Metabolism, 2010
• Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport
  Molecular Genetics and Metabolism, 2004
• X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8
  Annals of Neurology, 2002
• X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome
  The American Journal of Human Genetics, 2001