Atlas of Inherited Metabolic Diseases 4th Edition (2021) (PDF) by William L Nyhan

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Ebook Info

  • Published: 2021
  • Number of pages: 870
  • Format: PDF
  • File Size: 43.43 MB
  • Authors: William L Nyhan

Description

In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to.

The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs.

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