Homocystinuria with Stroke and Positive Familial History
نویسندگان
چکیده
منابع مشابه
a case of pseudohypoaldosteronism type 1 with positive familial history
normal 0 false false false en-us x-none ar-sa microsoftinternetexplorer4 background : pseudohypoaldosteronism type 1 (pha1) is a rare congenital disease of mineralocorticoid resistance which characterized by neonatal renal salt wasting, vomiting, dehydration and failure to thrive. the clinical presentation of the disease represented mostly during neonatal period with a wide spectrum of symptoms...
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Inherited homocystinuria is a rare autosomal recessive aminoacidopathy which through early diagnosis can prevent its severe neurologic and vascular complications. Here we report a 9-year-old girl with homocystinuria, presenting with sequential symptoms of bilateral lens dislocation, skeletal complication, and eventually dystonia from the age of 4 years. Laboratory evaluation revealed severe hig...
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ژورنال
عنوان ژورنال: Advanced Biomedical Research
سال: 2017
ISSN: 2277-9175
DOI: 10.4103/2277-9175.217215