Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe

• Main Authors: Simon A. Jones (Author), David Cheillan (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), Alberto Burlina (Author)
• 格式: 图书
• 出版: MDPI AG, 2022-03-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

Inherited metabolic disorders (IMDs) are mostly rare, have overlapping symptoms, and can be devastating and progressive. However, in many disorders, early intervention can improve long-term outcomes, and newborn screening (NBS) programmes can reduce caregiver stress in the journey to diagnosis and a...