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3 results on '"Bodamer OA"'

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

Author

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, Guillard, M, Morava, E, De Ruijter, J, Roscioli, T, Penzien, J, Van Den Heuvel, L, Willemsen, MA, De Brouwer, A, Bodamer, OA, Wevers, RA, and Lefeber, DJ

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. © 2011 Mosby Inc. All rights reserved.

Published
2011

2. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Author

Scarpa, M, Almassy, Z, Beck, M, Bodamer, OA, Bruce, IA, de Meirleir, L, Guffon, N, Guillen-Navarro, E, Hensman, P, Jones, S, Kamin, W, Kampmann, C, Lampe, C, Lavery, CA, Leao Teles, E, Link, BK, Lund, AM, Malm, G, Pitz, S, Rothera, M, Stewart, C, Tylki-Szmanska, A, van der Ploeg, Ans, walker, R, Zeman, J, Wraith, JE, Scarpa, M, Almassy, Z, Beck, M, Bodamer, OA, Bruce, IA, de Meirleir, L, Guffon, N, Guillen-Navarro, E, Hensman, P, Jones, S, Kamin, W, Kampmann, C, Lampe, C, Lavery, CA, Leao Teles, E, Link, BK, Lund, AM, Malm, G, Pitz, S, Rothera, M, Stewart, C, Tylki-Szmanska, A, van der Ploeg, Ans, walker, R, Zeman, J, and Wraith, JE

Published
2011

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