Document Detail


B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement.
MedLine Citation:
PMID:  21920538     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
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
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-9-13
Journal Detail:
Title:  The Journal of pediatrics     Volume:  -     ISSN:  1097-6833     ISO Abbreviation:  -     Publication Date:  2011 Sep 
Date Detail:
Created Date:  2011-9-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Mosby, Inc. All rights reserved.
Affiliation:
Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
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