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01
611283
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ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
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Disease
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Chemicals
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Biological Phenomena
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Anatomy
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Organisms
Disease
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MeSH term
Japanese
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01
Metabolism, Inborn Errors
代謝異常-先天性
Chemicals
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MeSH term
Japanese
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01
Carnitine
カルニチン
Acyl-CoA Dehydrogenases
アシルCoAデヒドロゲナーゼ類
Oxidoreductases Acting on CH-CH Group Donors
CH-CH供与体作用群酸化還元酵素
Butyryl-CoA Dehydrogenase
ブチリルCoAデヒドロゲナーゼ
Biological Phenomena
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MeSH term
Japanese
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01
Neonatal Screening
新生児スクリーニング
Protein Structure, Quaternary
蛋白質四次構造
Protein Folding
蛋白質折畳み
Frameshift Mutation
フレームシフト変異
Genetic Variation
遺伝的多様性
Genetic Testing
遺伝学的スクリーニング
Mutation, Missense
ミスセンス変異
Point Mutation
点変異
Mutation
変異
Anatomy
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MeSH term
Japanese
Link
01
Fibroblasts
線維芽細胞
Cells, Cultured
培養細胞
Organisms
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MeSH term
Japanese
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01
Humans
ヒト
Database Center for Life Science