岐阜大学 · 医学部附属病院

研究关键词新生児血液浄化療法・新生児急性腎不全・Clinical・Mutational・Characterizations・Ten・Indian・Patients

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• Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene.
• Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting.
• Impact of video-assisted neonatal resuscitation on newborns and resuscitators: A feasibility study.
• ケトン性低血糖症におけるPHKA2G991Aの意義 Overview

• モデルマウスを用いたミトコンドリアチオラーゼ欠損症の病態解明

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