2000
AUTHORSJ. M. Saudubray , H. Ogier de Baulny , C. Charpentier
ABSTRACTInborn 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... »
PAGES3-41
Inborn Metabolic Diseases
ISBN
978-3-662-04287-8
978-3-662-04285-4
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DOIhttp://dx.doi.org/10.1007/978-3-662-04285-4_1
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