Konu "RANBP2" için Makale Koleksiyonu listeleme
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Acute necrotizing encephalopathy associated with RANBP2 mutation: Value of MRI findings for diagnosis and intervention
(Springer, 2023)Introduction: Acute necrotizing encephalopathy (ANEC) is a rare entity characterized by encephalopathy following a febrile illness. Most patients are sporadic; however, recurrent and familial cases have been associated ... -
First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype
(Elsevier B.V., 2022)Familial acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur after common viral infections at different stages of life. The clinical findings of 2 siblings diagnosed with ANE were ...