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L-2-Hydroxyglutaric aciduria: Identification of ten novel mutations in the L2HGDH gene

Published on 2 October 2023
L-2-Hydroxyglutaric aciduria: Identification of ten novel mutations in the L2HGDH gene
Description
 
Date de publication 
Auteurs
Sass JO, Jobard F, Topcu M, Mahfoud A, Werle E, Cure S, Al-Sannaa N, Alshahwan SA, Bataillard M, Cimbalistiene L, Grolik C, Kemmerich V, Omran H, Sztriha L, Tabache M and Fischer J
Revue
Journal of Inherited Metabolic Disease 31 (), S275-S279, 2008
Année2,008
Département / Service
IG/CNG
Laboratoire
 
Impact Factor 
Institut IG
url DOI10.1007/s10545-008-0855-4

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