B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement

Maïlys Guillard; Eva Morava; Jorg De Ruijter; Tony Roscioli; Johann Penzien; Lambert Van Den Heuvel; Michel A. Willemsen; Arjan De Brouwer; Olaf A. Bodamer; Ron A. Wevers; Dirk J. Lefeber

doi:10.1016/j.jpeds.2011.08.007

B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement

Maïlys Guillard, Eva Morava, Jorg De Ruijter, Tony Roscioli, Johann Penzien, Lambert Van Den Heuvel, Michel A. Willemsen, Arjan De Brouwer, Olaf A. Bodamer, Ron A. Wevers, Dirk J. Lefeber

Human Genetics

Research output: Contribution to journal › Article

17 Scopus citations

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)
Pages (from-to)	1041-1043.e2
Journal	Journal of Pediatrics
Volume	159
Issue number	6
DOIs	https://doi.org/10.1016/j.jpeds.2011.08.007
State	Published - Dec 2011

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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Guillard, M., Morava, E., De Ruijter, J., Roscioli, T., Penzien, J., Van Den Heuvel, L., Willemsen, M. A., De Brouwer, A., Bodamer, O. A., Wevers, R. A., & Lefeber, D. J. (2011). B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement. Journal of Pediatrics, 159(6), 1041-1043.e2. https://doi.org/10.1016/j.jpeds.2011.08.007

B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement. / Guillard, Maïlys; Morava, Eva; De Ruijter, Jorg; Roscioli, Tony; Penzien, Johann; Van Den Heuvel, Lambert; Willemsen, Michel A.; De Brouwer, Arjan; Bodamer, Olaf A.; Wevers, Ron A.; Lefeber, Dirk J.

In: Journal of Pediatrics, Vol. 159, No. 6, 12.2011, p. 1041-1043.e2.

Research output: Contribution to journal › Article

Guillard, M, Morava, E, De Ruijter, J, Roscioli, T, Penzien, J, Van Den Heuvel, L, Willemsen, MA, De Brouwer, A, Bodamer, OA, Wevers, RA & Lefeber, DJ 2011, 'B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement', Journal of Pediatrics, vol. 159, no. 6, pp. 1041-1043.e2. https://doi.org/10.1016/j.jpeds.2011.08.007

Guillard, Maïlys ; Morava, Eva ; De Ruijter, Jorg ; Roscioli, Tony ; Penzien, Johann ; Van Den Heuvel, Lambert ; Willemsen, Michel A. ; De Brouwer, Arjan ; Bodamer, Olaf A. ; Wevers, Ron A. ; Lefeber, Dirk J. / B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement. In: Journal of Pediatrics. 2011 ; Vol. 159, No. 6. pp. 1041-1043.e2.

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