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Acta Paediatr. 1994 Aug;83(8):892-6.

Carbohydrate-deficient glycoprotein syndrome with previously unreported features.

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General Pediatric Hospital, Antwerp, Belgium.


A boy with carbohydrate-deficient glycoprotein syndrome died at five months of age in status epilepticus. Postmortem examination failed to show the classically observed olivopontocerebellar atrophy. Two previously unreported features were present: cataracts from the first week of life and lysosomal storage affecting mainly the anterior horn neurons of the spinal cord.

[Indexed for MEDLINE]

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