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2013 ◽  
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Author(s):  
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Madhuri Hegde
Keyword(s):  
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Congenital Disorders ◽  
Congenital Disorders Of Glycosylation

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain

2019 ◽  
Vol 95 (5) ◽  
pp. 615-626 ◽  
Author(s):  
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Ana Vega ◽  
Rosa Navarrete ◽  
M. Jesús Ecay ◽  
Rocío Calvo ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Phosphomannomutase 2

scholarly journals DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)

2002 ◽  
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Elke Geuzens ◽  
Gert Matthijs
Keyword(s):  
Molecular Diagnosis ◽  
Congenital Disorders ◽  
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