White Matter Changes in GM1 Gangliosidosis.
Indian Pediatr
;
2015 Feb; 52(2): 155-156
Artículo
en Inglés
| IMSEAR
| ID: sea-171101
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.
Texto completo:
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Índice:
IMSEAR (Asia Sudoriental)
Idioma:
Inglés
Revista:
Indian Pediatr
Año:
2015
Tipo del documento:
Artículo
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