Arginase Deficiency
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1328-1
Reference14 articles.
1. Bin Sawad A et al (2022a) Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): a systematic review. Mol Genet Metab 137:153–163. https://doi.org/10.1016/j.ymgme.2022.08.005
2. Bin Sawad A et al (2022b) Natural history of arginase 1 deficiency and the unmet needs of patients: a systematic review of case reports. JIMD Rep 63:330–340. https://doi.org/10.1002/jmd2.12283
3. Deignan JL, De Deyn PP, Cederbaum SD, Fuchshuber A, Roth B, Gsell W, Marescau B (2010) Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia. Mol Genet Metab 100 Suppl 1:S31–S36. https://doi.org/10.1016/j.ymgme.2010.01.012
4. Diaz GA, Bechter M, Cederbaum SD (2023) The role and control of arginine levels in arginase 1 deficiency. J Inherit Metab Dis 46:3–14. https://doi.org/10.1002/jimd.12564
5. Diaz GA et al (2021) Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency. J Inherit Metab Dis 44:847–856. https://doi.org/10.1002/jimd.12343
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