Newborn Screening for Krabbe Disease—Illinois Experience: Role of Psychosine in Diagnosis of the Disease

Population-based newborn screening for Krabbe disease was initiated by measurement of galactocerebrosidase (GALC) activity in the state of Illinois in December 2017. Due to the poor specificity of GALC for the diagnosis of Krabbe disease, second-tier testing services were provided to reduce the fals...

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Detalles Bibliográficos
Autores principales: Basheeruddin, Khaja, Shao, Rong, Balster, Fran, Gardley, Pearlie, Ashbaugh, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8162337/
https://www.ncbi.nlm.nih.gov/pubmed/34065072
http://dx.doi.org/10.3390/ijns7020024

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8162337/
https://www.ncbi.nlm.nih.gov/pubmed/34065072
http://dx.doi.org/10.3390/ijns7020024

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