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Cerebral creatine deficiency : ウィキペディア英語版 | Cerebral creatine deficiency Cerebral creatine deficiencies (CCD's) are a small group of disorders mainly concerned with creatine biosynthesis and utilization in the brain at the blood-brain interface. The most common CCD is: *creatine transporter defect (CTD), an X-linked condition caused by mutations in the ''SLC6A8'' gene. The two other forms of CCD are creatine ''enzymatic'' defects (CED's) in creatine biosynthesis, i.e. the enzyme deficiencies: *L-arginine:glycine amidinotransferase deficiency, and *guanidinoacetate methyltransferase deficiency. ==References==
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Cerebral creatine deficiency」の詳細全文を読む
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