A radiometric assay for aspartoacylase activity in human fibroblasts: application for the diagnosis of Canavan's disease
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference10 articles.
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2. Aspartoacylase deficiency and n-acetylaspartic aciduria in patients with Canavan disease;Matalon;Am J Med Genet,1988
3. Aspartoacylase deficiency: the enzyme defect in Canavan disease;Matalon;J Inher Metab Dis,1989
4. N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy;Divry;J Inher Metab Dis,1988
5. Letter to the editor: Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease;Divry;Am J Med Genet,1989
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1. Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease;Cell & Bioscience;2024-04-06
2. Canavan Disease as a Model for Gene Therapy-Mediated Myelin Repair;Frontiers in Cellular Neuroscience;2021-04-23
3. The state of treatment approach and diagnostics in Canavan disease with focus on the determination of N-acetylasparic acid;Chemical Papers;2016-12-09
4. Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan’s disease;Science China Life Sciences;2012-12
5. Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease;Molecular Genetics and Metabolism;2006-09
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