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Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening

Proximal urea cycle disorders (PUCDs) have adverse outcomes such as intellectual disability and death, which may benefit from newborn screening (NBS) through early detection and prevention with early treatment. Ornithine transcarbamylase deficiency (OTCD) and carbamoyl phosphate synthetase 1 deficie...

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Principais autores: Tania Vasquez-Loarte, John D. Thompson, J. Lawrence Merritt
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2020-10-01
coleção:International Journal of Neonatal Screening
Assuntos:
proximal urea cycle disorders
ornithine transcarbamylase deficiency
carbamoyl phosphate synthetase 1 deficiency
N-acetyl glutamate synthetase deficiency
neonatal screening
public health
Acesso em linha:https://www.mdpi.com/2409-515X/6/4/77
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