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MTHFRおよびFGGの複合変異による小児脳梗塞の1例報告

Xingyu Liu1,2, Haizhou Qian1, Huan Yang1

  • 1Department of Neurology, Xiaogan Hospital Affiliated to Wuhan University of Science and Technology, Hubei, China (X.L., H.Q., H.Y.).

Stroke
|February 23, 2026
PubMed
まとめ

No abstract available in PubMed .

キーワード:
抗凝固薬意識変異脳卒中血栓摘除術

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Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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