Publications [#131993] of James M Provenzale

Papers Published

1. JM Provenzale, DP Barboriak, K Sims, Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease., AJNR. American journal of neuroradiology, UNITED STATES, vol. 16 no. 4 Suppl (April, 1995), pp. 809-13, ISSN 0195-6108
   (last updated on 2007/02/06)

   Abstract:
   Fucosidosis is a rare lysosomal storage disorder with the clinical features of mental retardation, cardiomegaly, dysostosis multiplex, progressive neurologic deterioration, and early death. The neuroradiologic findings in two patients are reported, and include abnormalities within the globus pallidus (both patients) and periventricular white matter (one patient).

   Keywords:
   Biopsy • Brain • Brain Diseases, Metabolic • Cerebral Ventricles • Child • Child, Preschool • Female • Fucosidosis • Globus Pallidus • Humans • Lysosomes • Magnetic Resonance Imaging* • Male • Neurologic Examination • Skin • Tomography, X-Ray Computed* • diagnosis* • genetics • pathology • pathology* • ultrastructure