A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
The Wilson and Jungner (W&J) and Andermann criteria are meant to help select diseases eligible for population-based screening. With the introduction of next-generation sequencing (NGS) methods for newborn screening (NBS), more inherited metabolic diseases (IMDs) can technically be included, and...
Saved in:
Main Authors: | Abigail Veldman (Author), M. B. Gea Kiewiet (Author), Dineke Westra (Author), Annet M. Bosch (Author), Marion M. G. Brands (Author), René I. F. M. de Coo (Author), Terry G. J. Derks (Author), Sabine A. Fuchs (Author), Johanna. M. P. van den Hout (Author), Hidde H. Huidekoper (Author), Leo A. J. Kluijtmans (Author), Klaas Koop (Author), Charlotte M. A. Lubout (Author), Margaretha F. Mulder (Author), Bianca Panis (Author), M. Estela Rubio-Gozalbo (Author), Monique G. de Sain-van der Velden (Author), Jaqueline Schaefers (Author), Andrea B. Schreuder (Author), Gepke Visser (Author), Ron A. Wevers (Author), Frits A. Wijburg (Author), M. Rebecca Heiner-Fokkema (Author), Francjan J. van Spronsen (Author) |
---|---|
Format: | Book |
Published: |
MDPI AG,
2023-10-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead
by: Abigail Veldman, et al.
Published: (2022) -
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone
by: Allysa M. Dijkstra, et al.
Published: (2023) -
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy
by: Gea Kiewiet, et al.
Published: (2024) -
Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
by: Allysa M. Dijkstra, et al.
Published: (2023) -
Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism
by: Willemijn J. van Rijt, et al.
Published: (2020)