Classic Citrullinemia
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1862-1
Reference20 articles.
1. Ah Mew N, Krivitzky L, McCarter R, Batshaw M, Tuchman M (2013) Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ. J Pediatr 162:324–329.e321. https://doi.org/10.1016/j.jpeds.2012.06.065
2. Bazo A et al (2022) Gene therapy in combination with nitrogen scavenger pretreatment corrects biochemical and behavioral abnormalities of infant citrullinemia type 1 mice. Int J Mol Sci 23. https://doi.org/10.3390/ijms232314940
3. Borsuk M, Saab M, Tobin M (2023) Rare adult-onset citrullinemia type 1 in the postpartum period: a case report. Clin Pract Cases Emerg Med 7:20–23. https://doi.org/10.5811/cpcem.2022.10.57277
4. Chen HA et al (2022) Asymptomatic ASS1 carriers with high blood citrulline levels. Mol Genet Genomic Med 10:e2007. https://doi.org/10.1002/mgg3.2007
5. Diez-Fernandez C, Rüfenacht V, Häberle J (2017) Mutations in the human Argininosuccinate Synthetase (ASS1) gene, impact on patients, common changes, and structural considerations. Hum Mutat 38:471–484. https://doi.org/10.1002/humu.23184
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