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- Title
Morquio Disease with CNS Involvement.
- Authors
Pal, S.; Dey, C. S.; Ghosh, N.; Roy, S.; Nayek, K.; Dasgupta, M. K.
- Abstract
Morquio syndrome is a rare type of mucopolysaccharidosis. Our patient presented with uncontrolled seizures and gross skeletal deformity. He was suspected to be suffering from mucopolysaccharidosis based on his disease presentation but the diagnosis could be made as Morquio syndrome on the basis of the presence of keratan sulphate in the urine.
- Subjects
MUCOPOLYSACCHARIDOSIS; CARBOHYDRATE metabolism disorders; KIDNEYS; LYSOSOMAL storage diseases; PROGNOSIS; MEDICAL care
- Publication
Journal of Nepal Paediatric Society, 2014, Vol 34, Issue 2, p157
- ISSN
1990-7974
- Publication type
Article
- DOI
10.3126/jnps.v34i2.9298