Congenital disorder of glycosylation
Congenital disorders of glycosylation is a group of diseases with abnormal glycoproteins.
Systematic
References:
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26. |
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39. |
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None (2000) Congenital disorders of glycosylation caused by defects in mannose addition during N-linked oligosaccharide assembly. [^] |
42. |
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51. |
van de Kamp JM et al. (2007) Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. [^] |
52. |
Coman D et al. (2008) Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia. [^] |
53. |
Coman D et al. (2008) The skeletal manifestations of the congenital disorders of glycosylation. [^] |
54. |
Barone R et al. (2008) Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia. [^] |
55. |
Kane MS et al. (2016) Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. [^] |
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Wikipedia article Wikipedia EN (Congenital_disorder_of_glycosylation) [^] |