Abdulaziz Al-Sugair

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We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome type 3 caused by a mutation in the recently cloned CA8 gene. The linkage analysis revealed a high logarithm of the odds (LOD) score region on 8q that harbors the CA8(More)
Aim Typhlitis (neutropenicenterocolitis) is a life-threatening condition with 50% mortality occurring in 3.5% of adult neutropenic patients. With no definitive physical findings, diagnosis is usually made with contrast-enhanced compu-terised tomography (CECT). We present the first-ever case of this diagnosis being made with 18F-FDG PET/CT. Methods A(More)
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