A child with an underrecognized form of developmental delay: a congenital disorder of glycosylation

Mahant, Sanjay; Feigenbaum, Annette
November 2006
CMAJ: Canadian Medical Association Journal;11/21/2006, Vol. 175 Issue 11, p1369
Academic Journal
This article discusses the case of a 7-month-old boy with developmental delay and failure to thrive. He was delivered vaginally without complications. The symptoms showed by the child are stated, including several episodes of irritability and vomiting. In addition, the article gives the results of the differential diagnosis of the patient, which revealed the connection of developmental delay and defects in post-translational modification of glycosylated peptides.


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