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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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1709716103

Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder

About this item

Full title

Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder

Publisher

New York: Springer US

Journal title

Metabolic brain disease, 2015-10, Vol.30 (5), p.1291-1294

Language

English

Formats

Publication information

Publisher

New York: Springer US

More information

Scope and Contents

Contents

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...

Alternative Titles

Full title

Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1709716103

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1709716103

Other Identifiers

ISSN

0885-7490

E-ISSN

1573-7365

DOI

10.1007/s11011-015-9690-0

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