about
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylationTransferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.RFT1-CDG in adult siblings with novel mutations.Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Nina Ondruskova
@ast
Nina Ondruskova
@en
Nina Ondruskova
@es
Nina Ondruskova
@nl
type
label
Nina Ondruskova
@ast
Nina Ondruskova
@en
Nina Ondruskova
@es
Nina Ondruskova
@nl
prefLabel
Nina Ondruskova
@ast
Nina Ondruskova
@en
Nina Ondruskova
@es
Nina Ondruskova
@nl
P106
P1153
37033134500
P31
P496
0000-0001-9632-3231