ADSL Deficiency – The Lesser-Known Metabolic Epilepsy in Infancy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s12098-020-03435-4.pdf
Reference8 articles.
1. Jurecka A, Zikanova M, Kmoch S, Tylki-Szymanska A. Adenylosuccinate lyase deficiency. J Inherit Metab Dis. 2015;38:231–42.
2. Lundy CT, Jungbluth H, Pohl KR, et al. Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. Pediatr Neurol. 2010;43:351–4.
3. Zulfiqar M, Lin DD, Van der Graaf M, et al. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. J Magn Reson Imaging. 2013;37:974–80.
4. Jurecka A, Jurkiewicz E, Tylki-Szymanska A. Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. Eur J Pediatr. 2012;171:131–8.
5. Donti TR, Cappuccio G, Hubert L, et al. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 2016;8:61–6.
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