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An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency by Nassim Boutouchent, Julie Bourilhon, Bénédicte Sudrié-Arnaud, Antoine Bonnevalle, Lucie Guyant-Maréchal, Cécile Acquaviva, Loréna Dujardin-Ippolito, Soumeya Bekri, Ivana Dabaj, Abdellah Tebani
Published 2021-08-01Get full text
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Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel by Bénédicte Sudrié-Arnaud, Sarah Snanoudj, Ivana Dabaj, Hélène Dranguet, Lenaig Abily-Donval, Axel Lebas, Myriam Vezain, Bénédicte Héron, Isabelle Marie, Marc Duval-Arnould, Stéphane Marret, Abdellah Tebani, Soumeya Bekri
Published 2021-02-01Get full text
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NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation by Ivana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, Kimiyo Raymond, Franklin Ducatez, Anne-Marie Guerrot, Sarah Snanoudj, Sophie Coutant, Pascale Saugier-Veber, Stéphane Marret, Gaël Nicolas, Abdellah Tebani, Soumeya Bekri
Published 2021-02-01Get full text
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