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| Title: | B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement |
| Author(s): | Guillard, M. (314426833)
Morava, E. (298976846)
Ruijter, J. de
Roscioli, T. (321517733)
Penzien, J.
Heuvel, L.P.W.J. van den (07499316X)
Willemsen, M.A.A.P. (23476452X)
Brouwer, A.P.M. de (236446894)
Bodamer, O.A.
Wevers, R.A. (068311508)
Lefeber, D.J. (298210169) |
| Publication year: | 2011 |
| Document type: | Article / Letter to editor |
| Journal: | Journal of Pediatrics |
| ISSN: | 0022-3476 |
| Volume: | vol. 159 |
| Issue: | iss. 6 |
| Start page: | p. 1041 |
| End page: | p. 1043 e2 |
| Annotation: | Guillard, Mailys 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 United States J Pediatr. 2011 Dec;159(6):1041-1043.e2. Epub 2011 Sep 13. |
| 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. |
| Subject: | DCN 1: Perception and Action
IGMD 4: Glycostation disorders
DCN 2: Functional Neurogenomics
DCN 3: Neuroinformatics
IGMD 3: Genomic disorders and inherited multi-system disorders
NCMLS 3A: Genetics and epigenetic pathways of disease
IGMD 3: Genomic disorders and inherited multi-system disorders |
| Organization: | Laboratory of Genetic, Endocrine and Metabolic Diseases
Paediatrics
UMCN Extern
Human Genetics
Neurology |
| Appears in Collections: | Academic bibliography
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/2066/96665
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