A case is reported of a 5-year-old boy with Lowe syndrome. The patient was unusual in that he had only mild and transient acidosis with no rickets. The corneal opacities in the parents suggest that this disease might be autosomal recessive.
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Primary Progressive Aphasia Lacking Core Features of Nonfluent and Semantic Variants: Clinical, Neuroimaging, and Neuropathologic Features.
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November 2024
From the Departments of Neurology (H.W., J.R.D., H.C., J.G.-R., K.A.J.), Psychology (M.M.M.), and Radiology (N.T.T.P., V.J.L., J.L.W.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (Neuropathology) (D.W.D.), Mayo Clinic, Jacksonville, FL.
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bioRxiv
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View Article and Find Full Text PDFStructural and functional studies of the EGF20-27 region reveal new features of the human Notch receptor important for optimal activation.
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Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK. Electronic address:
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View Article and Find Full Text PDFDetection and Characterization of Clonal Hematopoiesis.
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