Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder
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New York: Springer US
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English
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New York: Springer US
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Biotinidase deficiency is one of the few treatable inborn errors of metabolism. We describe unique MRI features in two patients with biotinidase deficiency. Brain MRI in case one demonstrated symmetrical diffusion restriction in bilateral hippocampi, parahippocampal gyri, central tegmental tracts, and cerebellar white matter besides other structure...
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Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder
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TN_cdi_proquest_miscellaneous_1709716103
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1709716103
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ISSN
0885-7490
E-ISSN
1573-7365
DOI
10.1007/s11011-015-9690-0