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Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world data.
Yuan, Yuheng; Dimitrov, Bianca; Boy, Nikolas; Gleich, Florian; Zielonka, Matthias; Kölker, Stefan.
Affiliation
  • Yuan Y; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Dimitrov B; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Boy N; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Gleich F; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Zielonka M; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Kölker S; Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
J Inherit Metab Dis ; 46(3): 391-405, 2023 05.
Article in En | MEDLINE | ID: mdl-37078465
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases, Metabolic / Amino Acid Metabolism, Inborn Errors Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: J Inherit Metab Dis Year: 2023 Document type: Article Affiliation country: Alemania
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases, Metabolic / Amino Acid Metabolism, Inborn Errors Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: J Inherit Metab Dis Year: 2023 Document type: Article Affiliation country: Alemania