Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency

Mitochondrial trifunctional protein (TFP) deficiency is a rare inherited metabolic disorder caused by defects in fatty acid β-oxidation (FAO) of long-chain fatty acids, leading to impaired energy production. Fasting avoidance, fatty acid-restricted diets, and supplementation with medium-chain trigly...

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Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: Suyama, Tomonori, Shimura, Masaru, Fushimi, Takuya, Kuranobu, Naomi, Ichimoto, Keiko, Matsunaga, Ayako, Takayanagi, Masaki, Murayama, Kei
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2020
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7264074/
https://ncbi.nlm.nih.gov/pubmed/32509533
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100610
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