نتایج جستجو برای: familial dysautonomia

تعداد نتایج: 56514  

Journal: :The Israel Medical Association journal : IMAJ 2009
Nurith Hiller Natalia Simanovsky Chaya Bahagon Naama Bogot Channa Maayan

BACKGROUND Lung disease in patients with familia dysautonomia is caused mainly by recurrent aspiration of gastric contents, food and liquids swallowed incorrectly. OBJECTIVE To describe chest computed tomography findings in patients with familial dysautonomia. METHODS A retrospective analysis of chest CT findings was performed for 34 FD patients (15 females, 19 males) with a mean age of 18 ...

Journal: :The Journal of molecular diagnostics : JMD 2009
Lisa Kalman Jean Amos Wilson Arlene Buller John Dixon Lisa Edelmann Louis Geller William Edward Highsmith Leonard Holtegaard Ruth Kornreich Elizabeth M Rohlfs Toby L Payeur Tina Sellers Lorraine Toji Kasinathan Muralidharan

Many recessive genetic disorders are found at a higher incidence in people of Ashkenazi Jewish (AJ) descent than in the general population. The American College of Medical Genetics and the American College of Obstetricians and Gynecologists have recommended that individuals of AJ descent undergo carrier screening for Tay Sachs disease, Canavan disease, familial dysautonomia, mucolipidosis IV, N...

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