@article{de600d04504c48cea177ee29cfb73eaf,
title = "B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement",
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.",
author = "Ma{\"i}lys Guillard and Eva Morava and {De Ruijter}, Jorg and Tony Roscioli and Johann Penzien and {Van Den Heuvel}, Lambert and Willemsen, {Michel A.} and {De Brouwer}, Arjan and Bodamer, {Olaf A.} and Wevers, {Ron A.} and Lefeber, {Dirk J.}",
note = "Funding Information: Supported by the European Commission ( LSHM-CT2005-512131 , Euroglycanet ) and Metakids (The Netherlands). The authors declare no conflict of interest. ",
year = "2011",
month = dec,
doi = "10.1016/j.jpeds.2011.08.007",
language = "English (US)",
volume = "159",
pages = "1041--1043.e2",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "6",
}