The moving targets of expanded newborn screening for inborn errors of metabolism: the experience in Portugal
The Portuguese programme for newborn screening (NBS) includes 26 diseases (Congenital Hypothyroidism, 24 metabolic disorders and Cystic Fibrosis), presenting an estimated overall incidence of 1: 1.100 affected newborns (NB). It was established in the late 70s, starting with phenylketonuria (PKU), an...
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| Format: | conferenceObject |
| Language: | eng |
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2020
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| Online Access: | http://hdl.handle.net/10400.18/6931 |
| Country: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/6931 |