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Updated: Aug 9, 2026

Using Multi-fluorinated Bile Acids and In Vivo Magnetic Resonance Imaging to Measure Bile Acid Transport
Published on: November 27, 2016
Galactosemia: evaluation with MR imaging
M D Nelson1, J A Wolff, C A Cross
1Department of Radiology, Children's Hospital Los Angeles, CA 90027.
Abstract:
The cerebral findings at magnetic resonance imaging in 67 transferase-deficient galactosemic patients (36 female, 31 male; median age, 10 years) are reported. Twenty-two patients had mild cerebral atrophy, eight had cerebellar atrophy, and 11 had multiple small hyperintense lesions in the cerebral white matter on T2-weighted images. The classic galactosemic patients (those without measurable transferase activity) older than 1 year of age did not show the normal dropoff in peripheral white matter signal intensity on intermediate- and T2-weighted images. The authors postulate that this abnormal signal intensity is due to altered myelin formation secondary to the inability to make sufficient and/or normal galactocerebroside.
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