Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping.
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| Title: | Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping. |
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| Authors: | Guéant JL; INSERM, UMR_S1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine, Avenue de la Forêt de Haye, Vandoeuvre-Lès-Nancy, 54500, Nancy, France. jean-louis.gueant@univ-lorraine.fr.; Reference Centre of Inborn Metabolism Diseases and Department of Molecular Medicine, University Hospital Center, 54500, Nancy, France. jean-louis.gueant@univ-lorraine.fr., Feillet F; INSERM, UMR_S1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine, Avenue de la Forêt de Haye, Vandoeuvre-Lès-Nancy, 54500, Nancy, France.; Reference Centre of Inborn Metabolism Diseases and Department of Molecular Medicine, University Hospital Center, 54500, Nancy, France. |
| Source: | Human genetics [Hum Genet] 2022 Jul; Vol. 141 (7), pp. 1235-1237. |
| Publication Type: | Editorial; Comment |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1432-1203 |
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| DOI: | 10.1007/s00439-022-02467-4 |