A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes

• Main Authors: Alberto Burlina (Author), Simon A. Jones (Author), Anupam Chakrapani (Author), Heather J. Church (Author), Simon Heales (Author), Teresa H. Y. Wu (Author), Georgina Morton (Author), Patricia Roberts (Author), Erica F. Sluys (Author), David Cheillan (Author)
• Formato: Libro
• Publicado: MDPI AG, 2022-03-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

Newborn screening (NBS) programmes are essential in the diagnosis of inherited metabolic diseases (IMDs) and for access to disease modifying treatment. Most European countries follow the World Health Organisation (WHO) criteria to determine which disorders are appropriate for screening at birth; how...