White matter changes in GM1 gangliosidosis

Bidchol, Abdul Mueed and Girisha, KM (2015) White matter changes in GM1 gangliosidosis. Indain Pediatrics, 52. pp. 155-156.

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Background: GM1 gangliosidosis is a disorder due to GLB1 gene mutation. Case characteristics: A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging. Outcome: Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing. Message: We highlight the white matter changes in late infantile GM1 gangliosidosis.

Item Type: Article
Uncontrolled Keywords: Convulsions; magnetic resonance imaging; neuro-metabolic disorders.
Subjects: Medicine > KMC Manipal > Medical Genetics
Depositing User: KMC Manipal
Date Deposited: 13 Feb 2015 05:05
Last Modified: 18 May 2022 12:08
URI: http://eprints.manipal.edu/id/eprint/141888

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