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

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...

وصف كامل

التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	Alberto Burlina, Simon A. Jones, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, David Cheillan
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	MDPI AG 2022-03-01
سلاسل:	International Journal of Neonatal Screening
الموضوعات:	newborn screening (NBS) inherited metabolic disease inherited disorder public health paediatrics rare diseases
الوصول للمادة أونلاين:	https://www.mdpi.com/2409-515X/8/2/25
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!