Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F11%3A10071" target="_blank" >RIV/00216208:11110/11:10071 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/11:10071

Result on the web

<a href="http://dx.doi.org/10.1007/s10545-011-9311-y" target="_blank" >http://dx.doi.org/10.1007/s10545-011-9311-y</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I

Original language description

Congenital Disorders of Glycosylation (CDG) form a group of metabolic disorders caused by deficient glycosylation of proteins and/or lipids. Isoelectric focusing (IEF) of serum transferrin is the most common screening method to detect abnormalities of protein N-glycosylation. On basis of the isofocusing profile, patients can be grouped in CDG type I or CDG type II. Secondary causes, such as the presence of a transferrin protein polymorphism can complicate interpretation and must be excluded before time-consuming diagnostics is initiated. Several protein variants of transferrin are known that result in a shift in pI and thereby result in double bands in IEF. Incubation of the plasma sample with neuraminidase can indicate the presence of a protein polymorphism by showing double bands at the position of asialotransferrin. Here, we present two cases with a novel protein polymorphism, resulting in a single transferrin isoform after neuraminidase digestion. Mass spectrometric analysis of imm

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FG - Paediatrics

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2011

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Journal of Inherited Metabolic Disease

ISSN

0141-8955

e-ISSN

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Volume of the periodical

34

Issue of the periodical within the volume

4

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

6

Pages from-to

901-906

UT code for WoS article

000292829800008

EID of the result in the Scopus database

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