Journals Higher Education



Published: 16 August 2016

650 Pages

8-1/2 x 11 inches

ISBN: 9780199972135

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Bookseller Code (05)

Inherited Metabolic Disease in Adults

A Clinical Guide

Edited by Carla E. M. Hollak and Robin Lachmann

Oxford Monographs on Medical Genetics

  • Offers clear classification and biochemical description of all inborn metabolic disorders (IMDs), pediatric and adult
  • A systematic approach to each condition makes for easy clinical utility and navigability
  • Chapters on the metabolic approach to various clinical and biochemical presentations aid in differential diagnosis
  • Covers both acute presentations and long-term complications
  • Offers tips for interpreting a number of specialist biochemical tests (e.g., how do plasma amino acid or acyl carnitine profiles help in patient diagnosis and management?)
  • Brief, easily accessible management guidelines for the most common conditions of this type, formatted for quick reference and maximum clinical efficiency

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