Cerebral Organic Acidurias
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-030-67727-5_69
Reference21 articles.
1. Assadi M, Janson C, Wan DJ, et al. Lithium citrate reduces excessive intracerebral N-acetylaspartate in Canavan disease. Eur J Paediatr Neurol. 2010;14:354–9.
2. Boy N, Heringer J, Brackmann R, et al. Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. Orphanet J Rare Dis. 2017a;12:77. PMID: 28438223
3. Boy N, Mengler K, Thimm E, et al. Newborn screening: a disease-changing intervention for glutaric aciduria type 1. Ann Neurol. 2018;83:970–9. PMID: 29665094
4. Boy N, Mühlhausen C, Maier EM, et al. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis. 2017b;40:75–101. PMID: 27853989
5. Gessler DJ, Li D, Su Q, et al. Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease. JCI Insight. 2017;2:e9087. PMID: 28194442
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