Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-015-9812-1
Reference3 articles.
1. Baslow MH (2000) Canavan’s spongiform leukodystrophy: a clinical anatomy of a genetic metabolic CNS disease. J Mol Neurosci 15(2):61–9
2. Kaul R, Gao GP, Balamurugan K, Matalon R (1993) Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Nat Genet 5(2):118–123
3. Matalon R, Michals K, Kaul R (1995) Canavan disease: from spongy degeneration to molecular analysis. Pediatr 127(4):511–517
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3. An unusual case of a toddler with Canavan disease with frequent intractable seizures: A case report and review of the literature;SAGE Open Medical Case Reports;2023-01
4. Canavan’s spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature;Journal of Ultrasound;2022-02-20
5. Imaging Patterns Characterizing Mitochondrial Leukodystrophies;American Journal of Neuroradiology;2021-04-01
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