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  1. 1
    Academic Journal

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

    Authors: Anne-Frédérique Dessein, Eléonore Hebbar, Joseph Vamecq, Elodie Lebredonchel, Aurore Devos, Jamal Ghoumid, Karine Mention, Dries Dobbelaere, Marie Joncquel Chevalier-Curt, Monique Fontaine, Sabine Defoort, Vassily Smirnov, Claire Douillard, Claire-Marie Dhaenens

    Source: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100860- (2022)

    Subject Terms: LCHAD, Late-onset, Atypical maculopathy, Cardiomyopathy, HADHA, Mitochondrial trifunctional protein MTP, Medicine (General), R5-920, Biology (General), QH301-705.5

    File Description: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000209; https://doaj.org/toc/2214-4269

    Access URL: https://doaj.org/article/53924885011f4b18a7dac70e488471e0

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    Academic Journal

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