LE WE PMID CA
Carbohydrate deficient glycoprotein syndrome456Carbohydrate Deficient Glycoprotein Syndrom

Carbohydrate deficient glycoprotein syndrome

Congenital disorder of glycosylation

Dehydrodolichyl diphosphate synthase

Dimethylallyl pyrophosphate

Dolichol kinase

Dolichol P glucose

Dolichol P mannose

Dolichol phosphate

DPM Synthase

DPM1

DPM2

DPM3

Farnesyl pyrophosphate

Glycosylation

MPDU1

Phosphomannomutase 2 PMM2

Polyprenol Pyrophosphate

SRD5A3

1999  
1
Carbohydrate-deficient glycoprotein syndromes.
[10698281] Acta Biochim Pol 46(3): 727-38 (1999)
2000  
2
Carbohydrate-deficient glycoprotein syndromes.
[10684323] Postgrad Med J 76(893): 145-9 (2000)
2009  
3
Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients.
[19339218] Biochim Biophys Acta 1792(9): 835-40 (2009)
2011  
4
From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases.
[21384228] J Inherit Metab Dis 34(4): 859-67 (2011)
2011  
5
2011  
6
How to find and diagnose a CDG due to defective N-glycosylation.
[21739167] J Inherit Metab Dis 34(4): 849-52 (2011)

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  • Carbohydrate Deficient Glycoprotein Syndrom

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