Clinical Approach to Inherited Metabolic Diseases View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2000

AUTHORS

J. M. Saudubray , H. Ogier de Baulny , C. Charpentier

ABSTRACT

Inborn errors of metabolism are individually rare but collectively numerous. As a whole, they cannot be recognized through systematic neonatal screening tests, which are too slow, too expensive or unreliable. This makes it an absolute necessity to use a simple method of clinical screening before deciding to initiate sophisticated biochemical investigations. Clinical diagnosis of inborn errors of metabolism may, at times, be difficult for many reasons. More... »

PAGES

3-41

References to SciGraph publications

Book

TITLE

Inborn Metabolic Diseases

ISBN

978-3-662-04287-8
978-3-662-04285-4

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-3-662-04285-4_1

DOI

http://dx.doi.org/10.1007/978-3-662-04285-4_1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1014302601


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