Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6224455 | The Journal of Pediatrics | 2011 | 5 Pages |
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.
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Authors
Maïlys Guillard, Eva MD, PhD, Jorg de Ruijter, Tony MD, PhD, Johann MD, PhD, Lambert PhD, Michel A. MD, PhD, Arjan PhD, Olaf A. MD, PhD, Ron A. PhD, Dirk J. PhD,