نتایج جستجو برای: pick disease
تعداد نتایج: 1499420 فیلتر نتایج به سال:
how to cite this article: javadzadeh m. prenatal diagnosis and genetic counseling for niemann-pick c disease. iran j child neurol. 2015 autumn;9:4(suppl.1): 22. pls see pdf.
A 15-year old girl with slowly progressive gait and speech disorders, and with impairment of mental ability, is decsribed. The disease appeared 18 months before the first hospitalization at the Department of Neurology and Physchiatry for Children and Young People. Neurological and other examinations confirmed extrapyramidal and cerebellar signs, conspisuous knee and ankle reflexes, marked splen...
how to cite this article: rezayi ar. vitamin e and niemann–pick disease type c. iran j child neurol. 2015 autumn;9:4(suppl.1): 23. pls see pdf.
BACKGROUND Neuropathology of frontotemporal lobar degeneration is variable and relationship between the pathology and the clinical presentation remains uncertain. Abnormal deposits of hyperphosphorylated and ubiquitinated tau protein are present in 30% of cases, which include the classic presentation of Pick disease with argyrophilic, intraneuronal inclusions known as Pick bodies. This study ai...
A 4-year-old Afghan girl born to consanguineous parents presented with progressive neurological regression and hepatomegaly noticed after one year of age. The child had hypotonia, repeated unexplained falls and facial dyskinesia. Bone marrow examination revealed presence of storage cells suggestive of Gauchers or Niemann Pick. Confirmatory study by lysosomal enzyme from leucocytes was normal fo...
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