Canavan Disease: Three case report
Canavan disease, is an autosomal recessive disorder caused by decreased function of the enzyme aspartoacylase. The clinical symptoms include macrocephaly, hypotonia, developmental delay, seizures, optic atrophy and dystonia. We reported three patients with psychomotor developmental delay, hypotonia...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Cukurova University
2013-06-01
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Series: | Çukurova Üniversitesi Tıp Fakültesi Dergisi |
Subjects: | |
Online Access: | http://www.scopemed.org/fulltextpdf.php?mno=28239 |