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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...
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| Publicat a: | Cochrane Database Syst Rev |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley & Sons, Ltd
2020
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| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7387091/ https://ncbi.nlm.nih.gov/pubmed/32567677 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/14651858.CD012272.pub3 |
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