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Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes

Lysosomal diseases (LDs, or Lysosomal Storage Disorders) have become increasingly visible in the newborn screening community, with the addition of mucopolysaccharidosis type II (MPS-II) into the Recommended Uniform Screening Panel in August 2022 and Infantile Krabbe disease in June 2024. As more LDs...

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Principais autores: Elya Courtney, Samantha L. Isenberg, Timothy Lim, C. Austin Pickens, Rachel Lee, Carla Cuthbert, Konstantinos Petritis
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2026-06-01
coleção:International Journal of Neonatal Screening
Assuntos:
dried blood spot (DBS)
recombinant enzymes
proficiency testing (PT)
newborn screening (NBS)
lysosomal diseases (LDs)
Acesso em linha:https://www.mdpi.com/2409-515X/12/2/40
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