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A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency

BACKGROUND: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare inherited disease caused by pathogenic variants of HADHA gene. Along with signs common to fatty acid oxidation defects (FAOD), specific retina and heart alterations are observed. Because long-chain fatty acid oxidat...

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Detalles Bibliográficos
Autores principales:	Dessein, Anne-Frédérique, Hebbar, Eléonore, Vamecq, Joseph, Lebredonchel, Elodie, Devos, Aurore, Ghoumid, Jamal, Mention, Karine, Dobbelaere, Dries, Chevalier-Curt, Marie Joncquel, Fontaine, Monique, Defoort, Sabine, Smirnov, Vassily, Douillard, Claire, Dhaenens, Claire-Marie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Special issue on "Normal and Pathogenic Functions Related to Biochemical Genetic Disease"
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248219/ https://www.ncbi.nlm.nih.gov/pubmed/35782617 http://dx.doi.org/10.1016/j.ymgmr.2022.100860

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