mitochondria diary

ミトコンドリア病の治療法研究開発のための学術情報収集とシェア

PLA2G6関連の神経変性:小児における脳の鉄蓄積を伴う神経変性の稀な症例報告

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[PDF] PLA2G6-Associated Neurodegeneration: A Rare Case Report of Neurodegeneration with Brain Iron Accumulation in Children

N Widianti, MH Hanindita, NA Widjaja, R Irawan - Pakistan Journal of Medical …, 2023
… , and seizures strongly suggest the possibility of a mitochondrial defect. While
hepatosplenomegaly without significant hepatocellular … Seven of the ten
genetically defined types of NBIA are inherited autosomal recessive, except …
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PLA2G6関連の神経変性:小児における脳の鉄蓄積を伴う神経変性の稀な症例報告
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