MAN1B1-CDG: Three new individuals and associated biochemical profiles
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Keywords
CDG
Hypersialorrhea
Intellectual disability
MAN1B1
N-glycan mass spectrometry
Abbreviations
2-DE
two-dimensional electrophoresis
A1AT
α1-antitrypsin
ApoC-III
apolipoprotein C-III
BMI
body mass index
CDG
congenital disorder(s) of glycosylation
CE
capillary electrophoresis
DD
developmental delay
DWI
Diffusion-weighted imaging
Endo H
endo-ß-N-acetylglucosaminidase H
ER
endoplasmic reticulum
ESI-QTOF
electrospray ionization – quadrupole time of flight
FLAIR
fluid-attenuated inversion recovery
HPLC
high performance liquid chromatography
Hpt
haptoglobin
ID
intellectual disability
M6
Man6GlcNAc2
M8A/B/C
Man8GlcNAc2 lacking the first/middle/third terminal mannose
M9
Man9GlcNAc2
MALDI-TOF
matrix assisted laser desorption/ionization – time of flight
Man
mannose
MRI
magnetic resonance imaging
MS
mass spectrometry
PNGase F
peptide-N-glycosidase F
Trf
transferrin
WES
whole exome sequencing
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© 2021 The Authors. Published by Elsevier Inc.