Article ID Journal Published Year Pages File Type
6224455 The Journal of Pediatrics 2011 5 Pages PDF
Abstract

The clinical phenotype of congenital disorders of glycosylation is heterogeneous, mostly including a severe neurological involvement and multisystem disease. We identified a novel patient with a galactosyltransferase deficiency with mild hepatopathy and coagulation anomalies, but normal psychomotor development. The tissue-specific expression of the defective B4GALT1 gene correlated with the clinical phenotype.

Related Topics
Health Sciences Medicine and Dentistry Perinatology, Pediatrics and Child Health
Authors
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