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The Complexity of Newborn Screening Follow-Up in Phenylketonuria

In the United States, and most developed nations, the newborn screening (NBS) panel covers many primary disorders of metabolism, including phenylketonuria (PKU). When an elevated phenylalanine level is identified, the infant is evaluated for PKU and should also be tested for tetrahydrobiopterin (BH4...

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Pubblicato in:JIMD Rep
Autori principali: Hecht, Leah E., Wessel, Ann E., Levy, Harvey L., Berry, Gerard T.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4241208/
https://ncbi.nlm.nih.gov/pubmed/25155776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_329
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