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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...
Uloženo v:
| Vydáno v: | Cochrane Database Syst Rev |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley & Sons, Ltd
2017
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| Témata: | |
| On-line přístup: | 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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