5C53.4Ангилал

Disorders of creatine metabolism

Тодорхойлолт

An inborn error of metabolism in creatine which serves as an energy shuttle between the mitochondrial sites of ATP production and the cytosol where ATP is utilized

Индексийн нэр томьёо Index terms · 9

Disorders of creatine metabolismX-linked creatine transporter deficiencyX-linked intellectual deficit - seizures - short stature - midface hypoplasiaX-linked creatine deficiency syndromeGuanidinoacetate methyltransferase deficiencyCerebral creatine deficiencyGAMT - [guanidinoacetate methyltransferase] deficiencyArginine glycine amidinotransferase deficiencyAGAT - [Arginine glycine amidinotransferase] deficiency

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