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

Molecular Genetics and Metabolism Reports - Tập 31 - Trang 100860 - 2022
Anne-Frédérique Dessein1, Eléonore Hebbar2, Joseph Vamecq3, Elodie Lebredonchel4,5, Aurore Devos6, Jamal Ghoumid7, Karine Mention8, Dries Dobbelaere8, Marie Joncquel Chevalier-Curt1, Monique Fontaine1, Sabine Defoort9, Vassily Smirnov9, Claire Douillard8,10, Claire-Marie Dhaenens11
1Univ. Lille, CHU Lille, Centre de Biologie Pathologie Génétique, UF Métabolisme Général et Maladies Rares, F-59000 Lille, France
2CHU Lille, Cardiology Department, F-59000 Lille, France
3Inserm, Biochemistry and Molecular Biology Laboratory, HMNO, CBP, CHRU Lille & EA 7364 – RADEME, North France University Lille, F-59000 Lille, France
4Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, F-59000, Lille, France
5Univ. Lille, CHU Lille, Pôle Biologie Pathologie Génétique, Institut de biochimie et de biologie moléculaire, UAM de Glycopathologies, F-59000 Lille, France
6CHU Lille, Centre de Biologie Pathologie Génétique, UF Génopathies, F-59000 Lille, France
7CHU Lille, Clinical Genetics Department, Reference Center for Developmental Anomalies, F-59000 Lille, France
8Medical Reference Center for Inherited Metabolic Diseases, Jeanne de Flandre University Hospital and RADEME Research Team for Rare Metabolic and Developmental Diseases, EA 7364 CHU Lille, F-59037 Lille, France
9CHU Lille, Exploration of Vision and Neuro-ophthalmology department, Lille University Hospital, F-59000 Lille, France
10CHU Lille, Department of Endocrinology and Metabolism, F-59000 Lille, France
11Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, F-59000 Lille, France

Tài liệu tham khảo

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