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Results 1 - 6 of 6 for Cerebral creatine deficiency syndrome
  1. Arginine:glycine amidinotransferase deficiency 
    ... Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. Mol Genet Metab. 2013 Jul;109(3):260- ... Stockler-Ipsiroglu S. Biochemical and clinical characteristics of creatine deficiency ... available. Citation on PubMed
    https://medlineplus.gov/...nineglycine-amidinotransferase-deficiency - Genetics
  2. X-linked creatine deficiency 
    ... Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. Mol Genet Metab. 2013 Jul;109(3):260- ... F, Feki M, Kaabachi N. Creatine and creatine deficiency syndromes: biochemical and ... deficiencies: a group of treatable intellectual developmental disorders. ...
    https://medlineplus.gov/.../condition/x-linked-creatine-deficiency - Genetics
  3. Guanidinoacetate methyltransferase deficiency 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 PubMed Almeida LS, Vilarinho L, Darmin ...
    https://medlineplus.gov/...idinoacetate-methyltransferase-deficiency - Genetics
  4. GAMT gene 
    ... O, Henry H, Beard E, Uldry J. Creatine deficiency syndromes and the importance of creatine synthesis in the brain. Amino Acids. 2011 May;40(5):1315-24. ...
    https://medlineplus.gov/genetics/gene/gamt - Genetics
  5. SLC6A8 gene 
    ... O, Henry H, Beard E, Uldry J. Creatine deficiency syndromes and the importance of creatine synthesis in the brain. Amino Acids. 2011 May;40(5):1315-24. ...
    https://medlineplus.gov/genetics/gene/slc6a8 - Genetics
  6. GATM gene 
    ... O, Henry H, Beard E, Uldry J. Creatine deficiency syndromes and the importance of creatine synthesis in the brain. Amino Acids. 2011 May;40(5):1315-24. ...
    https://medlineplus.gov/genetics/gene/gatm - Genetics