Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease.
نویسندگان
چکیده
منابع مشابه
Glucocerebrosidase mutations in Gaucher disease.
BACKGROUND Thirty-six mutations that cause Gaucher disease, the most common glycolipid storage disorder, are known. Although both alleles of most patients with the disease contain one of these mutations, in a few patients one or both disease-producing alleles have remained unidentified. Identification of mutations in these patients is useful for genetic counseling. MATERIALS AND METHODS The D...
متن کاملNeurologic Manifestations of Albershunberg Osteopetrosis
A 14-year-old who had 7episodes of relapsing unitaleral paralysis of facial nerve during 7 year-;. was admitted to the hospital. The X-Ray revealed Osteopetrosis, and the bone biopsy was proved this diagnosis. But there was not any bone fracture, or anemia. Pressure over facial nerve caused by condensation of entire facial nerve canal. was detected by tomographia. Probablv intermitant facial...
متن کاملcommuting and non -commuting graphs of finit groups
فرض کنیمg یک گروه غیر آبلی متناهی باشد . گراف جابجایی g که با نماد نمایش داده می شود ،گرافی است ساده با مجموعه رئوس که در آن دو راس با یک یال به هم وصل می شوند اگر و تنها اگر . مکمل گراف جابجایی g راگراف نا جابجایی g می نامیم.و با نماد نشان می دهیم. گرافهای جابجایی و ناجابجایی یک گروه متناهی ،اولین بار توسطاردوش1 مطرح گردید ،ولی در سالهای اخیر به طور مفصل در مورد بحث و بررسی قرار گرفتند . در ،م...
15 صفحه اولNeurologic complications of celiac disease.
Neurologic complications of celiac disease (CD) include ataxia and peripheral neuropathy, which can be the presenting symptoms and signs. Early diagnosis and intervention could prevent development of further neurologic and systemic complications. Questions remain regarding the prevalence of the neurologic complications, the pathophysiological mechanisms, and the effectiveness of therapy or resp...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1982
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.79.18.5607