Cargando…
Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs
Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening for LSDs in the coming years. Here, we give a bri...
Autores principales: | Schielen, Peter C. J. I., Kemper, Evelien A., Gelb, Michael H. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5515486/ https://www.ncbi.nlm.nih.gov/pubmed/28730181 http://dx.doi.org/10.3390/ijns3020006 |
Ejemplares similares
-
Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots
por: Gelb, Michael H., et al.
Publicado: (2018) -
The Importance of Assay Imprecision near the Screen Cutoff for Newborn Screening of Lysosomal Storage Diseases
por: Robinson, Bruce H., et al.
Publicado: (2019) -
Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools
por: Gelb, Michael H.
Publicado: (2018) -
Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program
por: Blom, Maartje, et al.
Publicado: (2018) -
Introducing and Expanding Newborn Screening in the MENA Region
por: Skrinska, Victor, et al.
Publicado: (2020)