Marieke G A de Roo

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An infant carrying a heterozygous c.43_46delACTA and a heterozygous c.668 G>A mutation in the ALPL gene with hypophosphatasia in the absence of bone deformities presented with therapy-resistant seizures. Pyridoxal phosphate was extremely high in CSF and plasma. Pyridoxine treatment had only a transient effect and the severe encephalopathy was fatal.(More)
PURPOSE The effect of scaphoid nonunion deformity on wrist function is uncertain due to the lack of reliable imaging tools. Advanced three-dimensional (3-D) computed tomography (CT)-based imaging techniques may improve deformity assessment by using a mirrored image of the contralateral intact wrist as anatomic reference. The implementation of such(More)
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