[Severe metabolic diseases in neonates. Diagnosis and treatment (author's transl)]
- PMID: 1168276
[Severe metabolic diseases in neonates. Diagnosis and treatment (author's transl)]
Abstract
Life-threatening diseases in the newborn period might be due to rare inborn errors of metabolism. Clincal symptoms, diagnostic approach and therapy are outlined in some inherited diseases of amino acid-, carbohydrate and organic acid metabolism. A proposual for initial management in a suspected case is made.