The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib
Author:
Publisher
Elsevier BV
Subject
Molecular Biology,Molecular Medicine
Reference26 articles.
1. Congenital disorders of glycosylation: a booming chapter of pediatrics;Jaeken;Curr. Opin. Pediatr.,2004
2. Congenital hepatic fibrosis combined with protein-losing enteropathy and recurrent thrombosis;Pedersen;Acta Paediatr. Scand.,1980
3. Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome;Pelletier;J. Pediatr.,1986
4. Protein-losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Québec is congenital disorder of glycosylation type Ib;Vuillaumier-Barrot;J. Med. Genet.,2002
5. Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation;Jaeken;Am. J. Hum. Genet.,1998
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