Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).
Schollen
E
E
Frank
C G
CG
Keldermans
L
L
Reyntjens
R
R
Grubenmann
C E
CE
Clayton
P T
PT
Winchester
B G
BG
Smeitink
J
J
Wevers
R A
RA
Aebi
M
M
Hennet
T
T
Matthijs
G
G
D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000401:mortality; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005964:Glucosyltransferases / Q000172:deficiency* / Q000235:genetics*; D006031:Glycosylation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics / Q000502:physiology; D020125:Mutation, Missense / Q000235:genetics / Q000502:physiology; D022821:RNA Splice Sites / Q000235:genetics / Q000502:physiology
D022821:RNA Splice Sites; C473777:ALG8 protein, human; D005964:Glucosyltransferases