1.

Record Nr.

UNINA9910450291003321

Autore

Clarke Joe T. R

Titolo

A clinical guide to inherited metabolic diseases [[electronic resource] /] / Joe T.R. Clarke

Pubbl/distr/stampa

Cambridge, U.K. ; ; New York, : Cambridge University Press, 2002

ISBN

1-107-12616-9

1-280-15980-4

9786610159802

1-139-13040-4

0-511-12192-X

0-511-04288-4

0-511-14782-1

0-511-05466-1

Edizione

[2nd ed.]

Descrizione fisica

1 online resource (307 p.)

Disciplina

616.3/9042

Soggetti

Metabolism, Inborn errors of

Diagnosis, Differential

Electronic books.

Lingua di pubblicazione

Inglese

Formato

Materiale a stampa

Livello bibliografico

Monografia

Note generali

Description based upon print version of record.

Nota di bibliografia

Includes bibliographical references and index.

Nota di contenuto

Cover; Half-title; Title; Copyright; Dedicaton; Contents; Preface; Foreword; 1 General principles; 2 Neurologic syndrome; 3 Metabolic acidosis; 4 Hepatic syndrome; 5 Cardiac syndromes; 6 Storage syndrome and dysmorphism; 7 Acute metabolic illness in the newborn; 8 Newborn screening; 9 Laboratory investigation; 10 Treatment; Index

Sommario/riassunto

This clinically organized, user-friendly, handbook is intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis: how to determine that this is an inherited metabolic disease, and where to go from here to establish a diagnosis.