The role and control of arginine levels in arginase 1 deficiency
Author:
Affiliation:
1. Icahn School of Medicine at Mount Sinai New York NY USA
2. Aeglea BioTherapeutics, Inc. Austin TX USA
3. David Geffen School of Medicine University of California Los Angeles Los Angeles CA USA
Funder
Aeglea BioTherapeutics
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12564
Reference73 articles.
1. Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes
2. Clinical Features and Neurologic Progression of Hyperargininemia
3. Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency
4. Mutations and common variants in the human arginase 1 (ARG1 ) gene: Impact on patients, diagnostics, and protein structure considerations
5. Arginase-1 deficiency
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