Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of patients with inherited metabolic diseases. The clinical and laboratory data characteristic of the ever-growing number of rare metabolic conditions can be bewilder...

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Bibliographic Details
Published in:Springer eBooks
Corporate Author: SpringerLink (Online service)
Other Authors: Blau, Nenad (Editor), Duran, Marinus (Editor), Gibson, K Michael (Editor), Dionisi Vici, Carlo (Editor)
Format: eBook
Language:English
Published: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2014.
Subjects:
medicine.
Human genetics.
Medical laboratories.
Metabolic diseases.
Biochemistry.
Pediatrics.
Medicine & Public Health.
Metabolic Diseases.
Medical Biochemistry.
Laboratory Medicine.
Human Genetics.
Online Access:http://dx.doi.org/10.1007/978-3-642-40337-8
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Table of Contents:
  • Introductory Chapters
  • Amino acids
  • Organic acids
  • Vitamins and neurotransmitter
  • Energy metabolism
  • Organelles
  • Selected disorder
  • Biochemical phenotypes of questionable clinical significance
  • Profiles.

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