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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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:JIMD Rep
Päätekijät: Hecht, Leah E., Wessel, Ann E., Levy, Harvey L., Berry, Gerard T.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Springer Berlin Heidelberg 2014
Aiheet:
Linkit: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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