Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features
Author:
Publisher
Elsevier BV
Subject
Pathology and Forensic Medicine
Reference17 articles.
1. Congenital disorder of glycosylation type 1a: a clinicopathologic report of a newborn infant with cerebellar pathology;Aronica;Acta Neuropathol,2005
2. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases;deLonlay;J Med Genet,2001
3. Congenital disorders of glycosylation: a review;Grünewald;Pediatr Res,2002
4. Congenital disorders of glycosylation (CDG): update and new developments;Jaeken;J Inherit Metab Dis,2004
5. Congenital disorders of glycosylation caused by defects in mannose addition during N-linked oligosaccharide assembly;Orlean;J Clin Invest,2000
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