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先天性糖蛋白糖基化缺陷导致的疾病 被引量:9

Congenital disorders of glycosylation
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出处 《临床儿科杂志》 CAS CSCD 北大核心 2006年第12期953-955,共3页 Journal of Clinical Pediatrics
关键词 先天性糖蛋白糖基化缺陷 多脏器损害 转铁蛋白 congenital disorders of glycosylation muhisystem disorders fransferrin
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参考文献5

  • 1Schachter H. Congenital disorders involving defective N-glycosylation of proteins. Cell Mol Life Sci, 2001, 58(8):1085- 1104.
  • 2Jaeken J, Vanderschueren-Lodeweyckx M, Caesar P, et al.Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency,increased serum arysulfatase A and increased CSF protein:a new syndrome? Pediatr Res, 1980, 14(Suppl) : 179.
  • 3Jaeken J, Carchon H. What's new in congenital disorders of glycosylation? Eur J Paediatr Neurol, 2000, 4(4) : 163-167.
  • 4Fang J, Peters V, Assmann B, et al. Improvement of CDG diagnosis by combined examination of several glycoproteins. J Inher Metab Dis, 2004, 27(5):581-590.
  • 5Niehues R, Hasilik M, Alton G, et al. Carbohydrate deficient glycoprotein syndrome type I b. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest, 1998,101 (7): 1414-1420.

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