Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.
作者信息
Vuillaumier-Barrot S, Le Bizec C, de Lonlay P, Barnier A, Mitchell G, Pelletier V, Prevost C, Saudubray J M, Durand G, Seta N
出版信息
J Med Genet. 2002 Nov;39(11):849-51. doi: 10.1136/jmg.39.11.849.
Abstract
摘要
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Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.魁北克萨格奈-圣让湖区的蛋白丢失性肠病-肝纤维化综合征是一种Ib型先天性糖基化障碍疾病。
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