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

Published in:	International Journal of Neonatal Screening
Main Authors:	Tania Vasquez-Loarte, John D. Thompson, J. Lawrence Merritt
Format:	Article
Language:	English
Published:	MDPI AG 2020-10-01
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