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2021 ◽  
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Keyword(s):  
Case Report ◽  
Congenital Disorder ◽  
Type Ii ◽  
Congenital Disorder Of Glycosylation

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2000 ◽  
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Author(s):  
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C. Körner ◽  
Ulrike Holzbach-Eberle ◽  
K. von Figura
Keyword(s):  
Case Report ◽  
Genetic Defect ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation

scholarly journals Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Kristen Westenfield ◽  
Kyriakie Sarafoglou ◽  
Laura C. Speltz ◽  
Elizabeth I. Pierpont ◽  
Joan Steyermark ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation

scholarly journals Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry

2019 ◽  
Vol 492 ◽  
pp. 102-113 ◽  
Author(s):  
E.A. Barbosa ◽  
N. do C. Fontes ◽  
S.C.L. Santos ◽  
D.J. Lefeber ◽  
C. Bloch ◽  
...  
Keyword(s):  
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Congenital Disorder ◽  
Type Ii ◽  
Relative Quantification ◽  
Congenital Disorder Of Glycosylation

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pp. 7876-7885
Author(s):  
Xia Yang ◽  
Zi-Li Lv ◽  
Qing Tang ◽  
Xiu-Qi Chen ◽  
Li Huang ◽  
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Keyword(s):  
Case Report ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation
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