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Toplam kayıt 2, listelenen: 1-2
Variant case of sturge-weber syndrome
(Türk Nöroloji Derneği, 2018)
Dear Editor, A 17-year-old male was admitted to hospital with epileptic seizures. It was learnt that he had seizures since he was aged one year. He had no febrile seizures and his neuromotor development was normal. In his ...
Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review
(SPRINGER, 2023)
Introduction Cerebrotendinous xanthomatosis (CTX) is a rare autosomalrecessive disease that occurs as result of mutation in the CYP27A1 gene. Theclinical presentation of the disease is quite wide. We planned to briefyreview ...