Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

Arginase deficiency is a rare inborn error of metabolism that interrupts the final step of the urea cycle. Untreated individuals often present with episodic hyperammonemia, developmental delay, cognitive impairment, and spasticity in early childhood. The newborn screening (NBS) algorithms for argina...

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Bibliographic Details
Main Authors: Yue Huang, Rajesh Sharma, Annette Feigenbaum, Chung Lee, Inderneel Sahai, Rossana Sanchez Russo, Juanita Neira, Susan Sklower Brooks, Kelly E. Jackson, Derek Wong, Stephen Cederbaum, Felicitas L. Lacbawan, Charles M. Rowland, Pranoot Tanpaiboon, Denise Salazar
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Arginase deficiency
Newborn screening
NBS
Arginine
Ornithine
Arg/Orn ratio
Online Access:http://www.sciencedirect.com/science/article/pii/S221442692100029X

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http://www.sciencedirect.com/science/article/pii/S221442692100029X

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