Journals Higher Education



Published: 29 October 2014

384 Pages

7 x 10 inches

ISBN: 9780199797585

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Bookseller Code (05)

Inborn Errors of Metabolism

From Neonatal Screening to Metabolic Pathways

Edited by Brendan Lee, MD, PhD and Fernando Scaglia, MD

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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