A case of juvenile Canavan disease with distinct pons involvement
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health
Reference10 articles.
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4. Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay;Feigenbaum;Am J Med Genet,2004
5. The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients;Shaag;Am J Hum Genet,1995
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1. Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease;Cell & Bioscience;2024-04-06
2. Homozygous Paternally Inherited <i>ASPA</i> Variant in a Patient with Canavan Disease;Molecular Syndromology;2024
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 Disease and Recent Advances;Cyprus Journal of Medical Sciences;2021-11-01
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