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01
600649
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CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
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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
Link
01
Liver Diseases
肝臓疾患
Death, Sudden
突然死
Hypoglycemia
低血糖症
Lipid Metabolism, Inborn Errors
脂質代謝異常-先天性
Metabolism, Inborn Errors
代謝異常-先天性
Chromosome Deletion
染色体欠失
Chemicals
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MeSH term
Japanese
Link
01
Carnitine O-Palmitoyltransferase
カルニチンO-パルミトイルトランスフェラーゼ
オクタン酸
Palmitates
パルミチン酸塩
Ketone Bodies
アセトン体
Butyrates
酪酸塩
Oligodeoxyribonucleotides
オリゴデオキシリボヌクレオチド
DNA, Complementary
相補的DNA
DNA
デオキシリボ核酸
Biological Phenomena
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MeSH term
Japanese
Link
01
Point Mutation
点変異
Heterozygote
ヘテロ接合体
Protein Structure, Secondary
蛋白質二次構造
Energy Metabolism
エネルギー代謝
Base Sequence
塩基配列
Chromosome Deletion
染色体欠失
Homozygote
ホモ接合体
Polymorphism, Genetic
遺伝子多型
Alleles
対立遺伝子
Phenotype
表現型
Anatomy
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MeSH term
Japanese
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01
Myocardium
心筋
Liver
肝臓
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