Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future

• Principais autores: G. Scaturro (Autor), C. Sanfilippo (Autor), M. Piccione (Autor), E. Piro (Autor), M. Giuffrè (Autor), G. Corsello (Autor)
• Formato: Livro
• Publicado em: PAGEPress Publications, 2013-04-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Inborn errors of metabolism are inherited biochemical disorders caused by lack of a functional enzyme, transmembrane transporter, or similar protein, which then results in blockage of the corresponding metabolic pathway. Taken individually, inborn errors of metabolism are rare. However, as a group t...