Congenital biotinidase deficiency – MRI findings in two cases
Congenital biotinidase deficiency is a rare inborn error of metabolism that most commonly presents in infantile age group. Diffusion changes on magnetic resonance imaging (MRI) are sparsely described in the literature. We are presenting diffusion-weighted MRI findings in two confirmed cases of conge...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Thieme Medical and Scientific Publishers Pvt. Ltd.
2019-01-01
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| Series: | Indian Journal of Radiology and Imaging |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.4103/ijri.IJRI_159_18 |
| _version_ | 1819137254756450304 |
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| author | Rahul S Ranjan Sunil Taneja Anil Singh Vikas Gupta |
| author_facet | Rahul S Ranjan Sunil Taneja Anil Singh Vikas Gupta |
| author_sort | Rahul S Ranjan |
| collection | DOAJ |
| description | Congenital biotinidase deficiency is a rare inborn error of metabolism that most commonly presents in infantile age group. Diffusion changes on magnetic resonance imaging (MRI) are sparsely described in the literature. We are presenting diffusion-weighted MRI findings in two confirmed cases of congenital biotinidase deficiency in infantile age group with review of literature. |
| first_indexed | 2024-12-22T10:47:57Z |
| format | Article |
| id | doaj.art-2d6a7ce780c641798d9bf7d40e287c90 |
| institution | Directory Open Access Journal |
| issn | 0971-3026 1998-3808 |
| language | English |
| last_indexed | 2024-12-22T10:47:57Z |
| publishDate | 2019-01-01 |
| publisher | Thieme Medical and Scientific Publishers Pvt. Ltd. |
| record_format | Article |
| series | Indian Journal of Radiology and Imaging |
| spelling | doaj.art-2d6a7ce780c641798d9bf7d40e287c902022-12-21T18:28:53ZengThieme Medical and Scientific Publishers Pvt. Ltd.Indian Journal of Radiology and Imaging0971-30261998-38082019-01-0129019910310.4103/ijri.IJRI_159_18Congenital biotinidase deficiency – MRI findings in two casesRahul S Ranjan0Sunil Taneja1Anil Singh2Vikas Gupta3Department of Radiodiagnosis, Rama Medical College, Mandhana, Kanpur, Uttar Pradesh, IndiaEx. Consultant at G. S. V. M. Medical College, Kanpur, Uttar Pradesh, IndiaDepartment of Radiodiagnosis, Rama Medical College, Mandhana, Kanpur, Uttar Pradesh, IndiaConsultant Radiologist, Vikas Diagnostics, Kanpur, Uttar Pradesh, IndiaCongenital biotinidase deficiency is a rare inborn error of metabolism that most commonly presents in infantile age group. Diffusion changes on magnetic resonance imaging (MRI) are sparsely described in the literature. We are presenting diffusion-weighted MRI findings in two confirmed cases of congenital biotinidase deficiency in infantile age group with review of literature.http://www.thieme-connect.de/DOI/DOI?10.4103/ijri.IJRI_159_18biotinidase deficiencydevelopmental delayneurometabolic disorderseizures |
| spellingShingle | Rahul S Ranjan Sunil Taneja Anil Singh Vikas Gupta Congenital biotinidase deficiency – MRI findings in two cases Indian Journal of Radiology and Imaging biotinidase deficiency developmental delay neurometabolic disorder seizures |
| title | Congenital biotinidase deficiency – MRI findings in two cases |
| title_full | Congenital biotinidase deficiency – MRI findings in two cases |
| title_fullStr | Congenital biotinidase deficiency – MRI findings in two cases |
| title_full_unstemmed | Congenital biotinidase deficiency – MRI findings in two cases |
| title_short | Congenital biotinidase deficiency – MRI findings in two cases |
| title_sort | congenital biotinidase deficiency mri findings in two cases |
| topic | biotinidase deficiency developmental delay neurometabolic disorder seizures |
| url | http://www.thieme-connect.de/DOI/DOI?10.4103/ijri.IJRI_159_18 |
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