White matter changes in GM1 gangliosidosis

Moni Tuteja; Abdul Mueed Bidchol; Katta Mohan Girisha; Shubha R. Phadke

doi:10.1007/s13312-015-0593-2

White matter changes in GM1 gangliosidosis

Moni Tuteja, Abdul Mueed Bidchol, Katta Mohan Girisha, Shubha R. Phadke

Research output: Contribution to journal › Article › peer-review

7 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	155-156
Number of pages	2
Journal	Indian Pediatrics
Volume	52
Issue number	2
DOIs	https://doi.org/10.1007/s13312-015-0593-2
Publication status	Published - 2015

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health
Medicine(all)

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10.1007/s13312-015-0593-2

Cite this

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title = "White matter changes in GM1 gangliosidosis",

abstract = "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.",

author = "Moni Tuteja and Bidchol, {Abdul Mueed} and Girisha, {Katta Mohan} and Phadke, {Shubha R.}",

year = "2015",

doi = "10.1007/s13312-015-0593-2",

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T1 - White matter changes in GM1 gangliosidosis

AU - Tuteja, Moni

AU - Bidchol, Abdul Mueed

AU - Girisha, Katta Mohan

AU - Phadke, Shubha R.

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

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JF - Indian Pediatrics

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ER -

White matter changes in GM1 gangliosidosis

Abstract

All Science Journal Classification (ASJC) codes

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