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A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease

✍ Scribed by Amanda J. Hooper; Huy A. Tran; Mark R. Formby; John R. Burnett

Book ID: 116348048
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 504 KB
Volume: 398
Category: Article
ISSN: 0009-8981
DOI: 10.1016/j.cca.2008.08.007

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## To the Editor: Canavan disease (CD) is an autosomal recessive neurodegenerative disorder affecting white matter and leading to spongy degeneration. Macroencephaly is characteristic in children with this severe leukodystrophy. The disease is caused by the deficiency of aspartoacylase (ASPA) and i