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Screening of newborn infants for galactosemia in British Columbia

With simple microbiologic and fluorescent tests, we detected two cases of classic galactosemia, confirmed by specific enzyme assays, in the first 25 000 newborn infants in British Columbia screened for this disorder. The results were equivocally abnormal for another 31 infants, and a second blood sa...

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Autori principali: Kirby, Lorne T., Norman, Margaret G., Applegarth, Derek A., Hardwick, David F.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1985
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1346181/
https://ncbi.nlm.nih.gov/pubmed/3986728
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