Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reports

Abstract Background Arginase 1 deficiency (ARG1‐D) is a rare, progressive and debilitating urea cycle disorder characterized by clinical manifestations including spasticity, seizures, developmental delay, and intellectual disability. The aim of this systematic review was to identify and summarize th...

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Bibliographic Details

Published in:	JIMD Reports
Main Authors:	Aseel Bin Sawad, Arti Pothukuchy, Mark Badeaux, Victoria Hodson, Gillian Bubb, Kristina Lindsley, Jennifer Uyei, George A. Diaz
Format:	Article
Language:	English
Published:	Wiley 2022-07-01
Subjects:	ARG1‐D Arginase 1 deficiency hyperargininemia newborn screening pegzilarginase systematic literature review
Online Access:	https://doi.org/10.1002/jmd2.12283