scholarly journals Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report

2021 ◽  
Vol 9 (26) ◽  
pp. 7876-7885
Author(s):  
Xia Yang ◽  
Zi-Li Lv ◽  
Qing Tang ◽  
Xiu-Qi Chen ◽  
Li Huang ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation

Congenital Disorder of Glycosylation-Ic: Case Report and Genetic Defect

2000 ◽  
Vol 31 (2) ◽  
pp. 60-62 ◽  
Author(s):  
F. Hanefeld ◽  
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

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

2009 ◽  
Vol 30 (5) ◽  
pp. 795-803 ◽  
Author(s):  
Ana I. Vega ◽  
Celia Pérez-Cerdá ◽  
Lourdes R. Desviat ◽  
Gert Matthijs ◽  
Magdalena Ugarte ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
New Therapy ◽  
Splicing Mutations ◽  
Type Ia

Skeletal Dysplasia and Myelopathy in Congenital Disorder of Glycosylation Type IA

2006 ◽  
Vol 148 (1) ◽  
pp. 115-117 ◽  
Author(s):  
Steven M. Schade van Westrum ◽  
Paul J. Nederkoorn ◽  
P. Richard Schuurman ◽  
Tom Vulsma ◽  
Marinus Duran ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
Type Ia
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