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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2021
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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 |