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.
Original language | English (US) |
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Pages (from-to) | 1041-1043.e2 |
Journal | Journal of Pediatrics |
Volume | 159 |
Issue number | 6 |
DOIs | |
State | Published - Dec 2011 |
Externally published | Yes |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health