Canavan Disease: Three case report
| Autor: | Faruk Incecik, Efsun Gargun Sizmaz, M. Ozlem Herguner, Sakir Altunbasak |
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| Jazyk: | English<br />Turkish |
| Rok vydání: | 2013 |
| Předmět: | |
| Zdroj: | Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 38, Iss 3, Pp 495-498 (2013) |
| Druh dokumentu: | article |
| ISSN: | 0250-5150 |
| Popis: | 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 and macrocephaly, who was diagnosed as Canavan disease after the investigations. [Cukurova Med J 2013; 38(3.000): 495-498] |
| Databáze: | Directory of Open Access Journals |
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