Inborn errors of metabolism are individually rare, but collectively represent a large number of different and frequent conditions. Adequate diagnostic approach can be based on the proper use of only a few screening tests and there is the absolute necessity to teach primary care physicians simple methods of clinical investigation to accelerate timing of diagnosis. In this manuscript we have schematically focused upon the clinical categories in which the main inborn errors of intermediary metabolism fall with particular attention to the ones with neonatal onset.
|Translated title of the contribution||[Autom. eng. transl.] Inborn errors of metabolism and neonatal onset: A guide for pediatricians|
|Number of pages||9|
|Publication status||Published - 2000|
- Inborn errors of metabolism