Amniotic fluid alpha-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11150%2F10%3A10051465" target="_blank" >RIV/00216208:11150/10:10051465 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00179906:_____/10:10051465

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Amniotic fluid alpha-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia

Popis výsledku v původním jazyce

Congenital disorders of glycosylation (CDG) are a group of clinically and biochemically diverse defects. The current screening methods (based on analysis of transferrin),which are used postnatally for the most frequent types, are however not suitable forprenatal diagnosis. The aim of the study was to investigate whether alterations in the microheterogeneity of alpha-fetoprotein in amniotic fluid would provide more reliable results. Isoelectric focusing with direct immunofixation and silver staining wasused for analyses. A difference in the relative proportion of individual alpha-fetoprotein bands (particularly increase of band II density) was found in a case where CDG has been diagnosed postnatally, and in two other samples from pregnancies which resulted in termination, without further examination. Verification of our results in another laboratory with the exclusion of several potentially pertinent variables is advisable.

Název v anglickém jazyce

Amniotic fluid alpha-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia

Popis výsledku anglicky

Congenital disorders of glycosylation (CDG) are a group of clinically and biochemically diverse defects. The current screening methods (based on analysis of transferrin),which are used postnatally for the most frequent types, are however not suitable forprenatal diagnosis. The aim of the study was to investigate whether alterations in the microheterogeneity of alpha-fetoprotein in amniotic fluid would provide more reliable results. Isoelectric focusing with direct immunofixation and silver staining wasused for analyses. A difference in the relative proportion of individual alpha-fetoprotein bands (particularly increase of band II density) was found in a case where CDG has been diagnosed postnatally, and in two other samples from pregnancies which resulted in termination, without further examination. Verification of our results in another laboratory with the exclusion of several potentially pertinent variables is advisable.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FG - Pediatrie

OECD FORD obor

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Projekt

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Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2010

Kód důvěrnosti údajů

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

Název periodika

Clinical Chemistry and Laboratory Medicine

ISSN

1434-6621

e-ISSN

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Svazek periodika

48

Číslo periodika v rámci svazku

9

Stát vydavatele periodika

DE - Spolková republika Německo

Počet stran výsledku

5

Strana od-do

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Kód UT WoS článku

000283183300015

EID výsledku v databázi Scopus

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