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

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About: Amniotic fluid alpha-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	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 for prenatal 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 was used 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. 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 for prenatal 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 was used 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. (en)
Title	Amniotic fluid alpha-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia Amniotic fluid alpha-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia (en)
skos:prefLabel	Amniotic fluid alpha-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia Amniotic fluid alpha-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia (en)
skos:notation	RIV/00179906:_____/10:10051465!RIV11-MZ0-00179906
http://linked.open...avai/riv/aktivita	V Z
http://linked.open...avai/riv/aktivity	V, Z(MZ0FNHK2005)
http://linked.open...iv/cisloPeriodika	9
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Marklová, Eliška Albahri, Ziad
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice Hradec Králové
http://linked.open...dnocenehoVysledku	246115
http://linked.open...ai/riv/idVysledku	RIV/00179906:_____/10:10051465
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	prenatal diagnosis; isoelectric focusing; congenital disorders of glycosylation; amniotic fluid; alpha-fetoprotein (en)
http://linked.open.../riv/klicoveSlovo	isoelectric focusing amniotic fluid prenatal diagnosis alpha-fetoprotein congenital disorders of glycosylation
http://linked.open...odStatuVydavatele	DE - Spolková republika Německo
http://linked.open...ontrolniKodProRIV	[EF4049BF82A8]
http://linked.open...i/riv/nazevZdroje	Clinical Chemistry and Laboratory Medicine
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	2 (xsd:int)
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	48
http://linked.open...iv/tvurceVysledku	Marklová, Eliška Albahri, Ziad
http://linked.open...ain/vavai/riv/wos	000283183300015
http://linked.open...n/vavai/riv/zamer	Nové diagnostické indikátory a léčebné postupy v závislosti na různých obdobích života s důrazem na stáří
issn	1434-6621
number of pages	5 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Amniotic fluid alpha-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia Amniotic fluid alpha-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia Amniotic fluid alpha-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia

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