Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency.

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作者： Tomonori,Suyama ^[1] ; Masaru,Shimura ^[1] ; Takuya,Fushimi ^[1] ; Naomi,Kuranobu ^[1] ; Keiko,Ichimoto ^[1] ; Ayako,Matsunaga ^[1] ; Masaki,Takayanagi ^[1] ; Kei,Murayama ^[1]

作者单位： Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan. ^[1]

关键词 ALT, alanine aminotransferase AST, aspartate aminotransferase Bezafibrate CK, creatine kinase CPA, cardiopulmonary arrest CPT2, carnitine palmitoyltransferase II FAO, fatty acid β-oxidation FAODs, fatty acid β-oxidation disorders Fatty acid β-oxidation disorders (FAODs)LCHAD, long-chain 3-hydroxyacyl-CoA dehydrogenase MCT, medium-chain triglycerides Myalgia QOL, quality of life Rhabdomyolysis TFP deficiency TFP, trifunctional protein VLCAD, very-long-chain acyl-CoA dehydrogenase l-carnitine

DOI 10.1016/j.ymgmr.2020.100610

PMID 32509533

发布时间 2020-09-28

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Molecular genetics and metabolism reports

2020年24卷

100610页

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Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency.

Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

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Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency.

Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

相关期刊

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