Journal of Clinical Imaging Science · 2019 · 31 citations · 27 references
Krabbe disease shows distinct imaging features which correspond to different clinical age-based subtypes. This article reemphasizes these distinct imaging phenotypes, highlights a novel imaging appearance in juvenile Krabbe, and also alludes to the rare variant of saposin deficiency. Awareness of these patterns is essential in suggesting the appropriate diagnosis and guiding conclusive diagnostic workup. Large multicenter longitudinal studies are needed to further define the role of imaging in predicting the clinical course and thus to guide therapeutic options.
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
William Krivit, Elsa Shapiro, Charles Peters et al. · New England Journal of Medicine · 1998 · 318 citations