Non-genetic therapeutic approaches to Canavan disease
نویسندگان
چکیده
منابع مشابه
Non-genetic therapeutic approaches to Canavan disease.
Canavan disease (CD) is a rare leukodystrophy characterized by diffuse spongiform white matter degeneration, dysmyelination and intramyelinic oedema with consequent impairment of psychomotor development and early death. The molecular cause of CD has been identified as being mutations of the gene encoding the enzyme aspartoacylase (ASPA) leading to its functional deficiency. The physiological ro...
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canavan disease is a rare, autosomal recessive inherited, neurological disorder, classified as a leukodystrophy. the symptoms of canavan disease appear in early infancy and progress rapidly. most infants with canavan disease appear normal early in life. by three to five months of age, macrocephaly, lack of head control, and developmental delays become apparent. developmental delay becomes more ...
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ژورنال
عنوان ژورنال: Journal of the Neurological Sciences
سال: 2016
ISSN: 0022-510X
DOI: 10.1016/j.jns.2016.05.012