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Published: 20 November 2014

384 Pages


ISBN: 9780199797585

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Inborn Errors of Metabolism

From Neonatal Screening to Metabolic Pathways

Edited by Brendan Lee and Fernando Scaglia

Oxford Monographs on Medical Genetics

  • Focuses on different metabolic pathways and addresses the underlying mechanisms of pathogenesis
  • Goes further than the traditional approach that focuses on classical biochemistry, clinical presentation, and standard treatments
  • Presents the complex clinical phenotype using an innovative pathway approach
  • Includes coverage of newborn screening for IEMs

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