نتایج جستجو برای: cerebrotendinous xanthomatosis
تعداد نتایج: 1043 فیلتر نتایج به سال:
We report the detection and molecular characterization of extended spectrum β-lactamases in a series of 112 clinical isolates of Enterobacteriaceae from the Hôpital Principal de Dakar, Senegal, including five CTX-M-15-producing Morganella morganii isolates, which are reported for the first time in this country.
Abstract Introduction Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease that occurs as result of mutation in the CYP27A1 gene. The clinical presentation quite wide. We planned to briefly review literature with this case diagnosed CTX. Case A 50-year-old male patient was admitted neurology outpatient clinic complaining progressive worsening his walking, and swelling legs...
Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder that leads to multisystem involvement. It caused by mutations in the CYP27A1 gene which encodes mitochondrial enzyme sterol 27-hydroxylase. Case presentation Herein we describe two affected CTX siblings with symptoms including seizures, severe diarrhea (steatorrhea), vomiting, and devel...
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