Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening

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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Bibliographic Details
Main Authors: Tania Vasquez-Loarte, John D. Thompson, J. Lawrence Merritt
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:International Journal of Neonatal Screening
Subjects:
proximal urea cycle disorders
ornithine transcarbamylase deficiency
carbamoyl phosphate synthetase 1 deficiency
N-acetyl glutamate synthetase deficiency
neonatal screening
public health
Online Access:https://www.mdpi.com/2409-515X/6/4/77

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https://www.mdpi.com/2409-515X/6/4/77

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