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Early Development of Newborn Screening for HCU and Current Challenges

Classic homocystinuria (HCU) was added to newborn screening (NBS) by Robert Guthrie a few years after the disorder was first described. The justification for NBS was similar to that for PKU, that presymptomatic identification and early dietary treatment would prevent the clinical consequences, which...

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Detalles Bibliográficos
Autor principal: Levy, Harvey L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8628950/
https://www.ncbi.nlm.nih.gov/pubmed/34842599
http://dx.doi.org/10.3390/ijns7040067