A clinical guide to inherited metabolic diseases /

The second edition of the clinically organized, user-friendly handbook intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis: how to identify an inherited metabolic disease, and how to progress to establish a diagnosis.

Bibliographic Details
Call Number:Libro Electrónico
Main Author: Clarke, Joe T. R.
Format: Electronic eBook
Language:Inglés
Published: Cambridge, U.K. ; New York : Cambridge University Press, 2002.
Edition:2nd ed.
Subjects:
Metabolism, Inborn errors of.
Diagnosis, Differential.
Metabolism, Inborn Errors > diagnosis
Metabolism, Inborn Errors
Diagnosis, Differential
Laboratory Techniques and Procedures
Metabolism, Inborn Errors > genetics
Metabolism, Inborn Errors > therapy
Maladies métaboliques congénitales.
Diagnostics différentiels.
MEDICAL > Endocrinology & Metabolism.
MEDICAL > Nutrition.
Erreurs innées du métabolisme > Diagnostic.
Erreurs innées du métabolisme > Génétique.
Erreurs innées du métabolisme > Thérapeutique.
Diagnostic différentiel.
Diagnostic laboratoire.
Métabolisme, Troubles du, chez l'enfant.
Andre fag (naturvidenskab og teknik) > Andre fag
Online Access:Texto completo
Table of Contents:
  • General principles
  • Neurologic syndrome
  • Metabolic acidosis
  • Hepatic syndrome
  • Cardiac syndromes
  • Storage syndrome and dysmorphism
  • Acute metabolic illness in the newborn
  • Newborn screening
  • Laboratory investigation.

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