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

Research output: Contribution to journal › Article › peer-review

18 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
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/j.jpeds.2011.08.007

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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 › peer-review

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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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. ",

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AU - Roscioli, Tony

AU - Penzien, Johann

AU - Van Den Heuvel, Lambert

AU - Willemsen, Michel A.

AU - De Brouwer, Arjan

AU - Bodamer, Olaf A.

AU - Wevers, Ron A.

AU - Lefeber, Dirk J.

N1 - Funding Information: Supported by the European Commission ( LSHM-CT2005-512131 , Euroglycanet ) and Metakids (The Netherlands). The authors declare no conflict of interest.

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

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