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Newborn screening for galactosaemia
BACKGROUND: Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose‐1‐phosphate uridyltransferase. This is a rare and potentially lethal condition that classically presents in the first week of life once milk feeds have commenced. A...
Kaydedildi:
| Yayımlandı: | Cochrane Database Syst Rev |
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| Asıl Yazarlar: | , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
John Wiley & Sons, Ltd
2017
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6485983/ https://ncbi.nlm.nih.gov/pubmed/29274129 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/14651858.CD012272.pub2 |
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