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

Maïlys Guillard, Eva Morava-Kozicz, 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

Research output: Contribution to journalArticle

14 Citations (Scopus)

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 languageEnglish (US)
JournalJournal of Pediatrics
Volume159
Issue number6
DOIs
StatePublished - Dec 1 2011
Externally publishedYes

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Congenital Disorders of Glycosylation
Glycosylation
Phenotype
Genes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement. / Guillard, Maïlys; Morava-Kozicz, 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, 01.12.2011.

Research output: Contribution to journalArticle

Guillard, M, Morava-Kozicz, 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. https://doi.org/10.1016/j.jpeds.2011.08.007
Guillard, Maïlys ; Morava-Kozicz, 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.
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