Sudden death of a 2-year-old child due to alpha-ketoadipic aciduria
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Pathology and Forensic Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12024-022-00483-4.pdf
Reference8 articles.
1. Candito M, Richelme C, Parvy P, Dageville C, Appert A, Bekri S, et al. Abnormal alpha-aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage. J Inherit Metab Dis. 1995;18(1):56–60. https://doi.org/10.1007/BF00711373.
2. da Silva JC, Amaral AU, Cecatto C, Wajner A, Dos Santos GK, Ribeiro RT, et al. Alpha-ketoadipic acid and alpha-aminoadipic acid cause disturbance of glutamatergic neurotransmission and induction of oxidative stress in vitro in brain of adolescent rats. Neurotox Res. 2017;32(2):276–90. https://doi.org/10.1007/s12640-017-9735-8.
3. Gray RG, O’Neill EM, Pollitt RJ. Alpha-aminoadipic aciduria: chemical and enzymatic studies. J Inherit Metab Dis. 1980;2(4):89–92. https://doi.org/10.1007/BF01805664.
4. Hagen J, te Brinke H, Wanders RJ, Knegt AC, Oussoren E, Hoogeboom AJ, et al. Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. J Inherit Metab Dis. 2015;38(5):873–9. https://doi.org/10.1007/s10545-015-9841-9.
5. Mansouri A, Gattolliat CH, Asselah T. Mitochondrial dysfunction and signaling in chronic liver diseases. Gastroenterology. 2018;155(3):629–47. https://doi.org/10.1053/j.gastro.2018.06.083.
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