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A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency.
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.
Affiliation
  • Dessein AF; Univ. Lille, CHU Lille, Centre de Biologie Pathologie Génétique, UF Métabolisme Général et Maladies Rares, F-59000 Lille, France.
  • Hebbar E; CHU Lille, Cardiology Department, F-59000 Lille, France.
  • Vamecq J; Inserm, Biochemistry and Molecular Biology Laboratory, HMNO, CBP, CHRU Lille & EA 7364 - RADEME, North France University Lille, F-59000 Lille, France.
  • Lebredonchel E; Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, F-59000 Lille, France.
  • Devos A; Univ. Lille, CHU Lille, Pôle Biologie Pathologie Génétique, Institut de biochimie et de biologie moléculaire, UAM de Glycopathologies, F-59000 Lille, France.
  • Ghoumid J; CHU Lille, Centre de Biologie Pathologie Génétique, UF Génopathies, F-59000 Lille, France.
  • Mention K; CHU Lille, Clinical Genetics Department, Reference Center for Developmental Anomalies, F-59000 Lille, France.
  • Dobbelaere D; Medical 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.
  • Chevalier-Curt MJ; Medical 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.
  • Fontaine M; Univ. Lille, CHU Lille, Centre de Biologie Pathologie Génétique, UF Métabolisme Général et Maladies Rares, F-59000 Lille, France.
  • Defoort S; Univ. Lille, CHU Lille, Centre de Biologie Pathologie Génétique, UF Métabolisme Général et Maladies Rares, F-59000 Lille, France.
  • Smirnov V; CHU Lille, Exploration of Vision and Neuro-ophthalmology department, Lille University Hospital, F-59000 Lille, France.
  • Douillard C; CHU Lille, Exploration of Vision and Neuro-ophthalmology department, Lille University Hospital, F-59000 Lille, France.
  • Dhaenens CM; Medical 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.
Mol Genet Metab Rep ; 31: 100860, 2022 Jun.
Article in En | MEDLINE | ID: mdl-35782617
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Risk_factors_studies Language: En Journal: Mol Genet Metab Rep Year: 2022 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Risk_factors_studies Language: En Journal: Mol Genet Metab Rep Year: 2022 Document type: Article