نتایج جستجو برای: canavan
تعداد نتایج: 211 فیلتر نتایج به سال:
Canavan disease (CD) is a rare early-onset progressive spongiform leukodystrophy in brain of both humans and animals and is due to mutations in the gene encoding for aspartoacylase (ASPA), the enzyme that hydrolyzes N-acetyl-L-aspartate (NAA) [1]. In humans, the effects of CD are generally much more profound than in rodents exhibiting this same genetic lesion. The gene for ASPA is an autosomal ...
Dr Dermot Canavan BDentSc, MGDS (Edin), MS U Calif 69 Eglinton Road, Donnybrook, Dublin 4 Tel: 01 2694022 Fax: 01 2694004 Introduction Orofacial pain is an important issue for both patients and clinicians alike. Pain within the oral cavity is most frequently dental in origin (odontogenic) and extra-orally the most common source of pain is musculoskeletal (TMD). Once these conditions have been e...
Canavan disease is an autosomal recessive leukodystrophy due to accumulation of N-acetyl aspartic acid (NAA) in brain, cerebrospinal fluid (CSF), and urine characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, sleep disturbance and macrocephaly. Brain magnetic resonance imaging (MRI) shows white-matter changes. The best method for diagnosis is determined...
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