Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8343035 | Molecular Genetics and Metabolism | 2018 | 8 Pages |
Keywords
αFPcblAGGTOXPHOS deficiencyIDH1IDH2ALTMMAPCCAWPPSIGFRASTalanine transaminasealpha-fetoproteinpropionic acidemiaMethylmalonic acidemiaOrganic acidemiasMRIIsocitrate dehydrogenase 1isocitrate dehydrogenase 2intelligence quotientLiver diseaseaspartate transaminaseMagnetic resonance imagingLiver fibrosisWechsler Intelligence Scale for Childrenintellectual disabilityGlomerular filtration rateGrowth hormoneHepatomegalyWechsler Preschool and Primary Scale of Intelligencegamma-glutamyltranspeptidase
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Authors
Apolline Imbard, Nuria Garcia Segarra, Marine Tardieu, Pierre Broué, Juliette Bouchereau, Samia Pichard, Hélène Ogier de Baulny, Abdelhamid Slama, Charlotte Mussini, Guy Touati, Marie Danjoux, Pauline Gaignard, Hannes Vogel, François Labarthe,