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Title: Carbohydrate-deficient glycoprotein syndrome with previously unreported features
Authors: Eyskens, F ×
Ceuterick, C
Martin, Jj
Janssens, G
Jaeken, Jacques #
Issue Date: Aug-1994
Publisher: Scandinavian university press
Series Title: Acta paediatrica vol:83 issue:8 pages:892-896
Abstract: 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.
ISSN: 0803-5253
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Leuven Language Institute (ILT)
Teacher Training Physics (-)
Section Child - Miscellaneous (-)
× corresponding author
# (joint) last author

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