About: Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios

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About: Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://onlinelibrary.wiley.com/doi/10.1111/bjh.12779/full
Description	This is a study of 11 pyruvate kinase deficient patients with 9 different disease-causing PKLR mutations; 2 have not been described in the literature. In all patients with increased ferritin were determined low levels of hepcidin production and increased concentrations of growth differentiation factor-15 (without negative correlation with hepcidin). This result indicates the existence of another as yet unidentified erythroid regulator of hepcidin synthesis in pyruvate kinase deficient patients. In one case with a new frameshift deletion (c.1553delG) and severe hemolytic anemia phenotype involving neonatal hyperferritinemia was found that this hyperferritinemia is not associated with hemochromatosis (no disease causing mutation was determined) but with severe pyruvate kinase deficiency. This is a study of 11 pyruvate kinase deficient patients with 9 different disease-causing PKLR mutations; 2 have not been described in the literature. In all patients with increased ferritin were determined low levels of hepcidin production and increased concentrations of growth differentiation factor-15 (without negative correlation with hepcidin). This result indicates the existence of another as yet unidentified erythroid regulator of hepcidin synthesis in pyruvate kinase deficient patients. In one case with a new frameshift deletion (c.1553delG) and severe hemolytic anemia phenotype involving neonatal hyperferritinemia was found that this hyperferritinemia is not associated with hemochromatosis (no disease causing mutation was determined) but with severe pyruvate kinase deficiency. (en)
Title	Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios (en)
skos:prefLabel	Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios (en)
skos:notation	RIV/61989592:15110/14:33150194!RIV15-MSM-15110___
http://linked.open...avai/riv/aktivita	P S
http://linked.open...avai/riv/aktivity	P(ED0030/01/01), P(GAP305/11/1745), S
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2015
http://linked.open...aciTvurceVysledku	Partschová, Martina Pospíšilová, Pavla Holub, Dušan DIVOKÝ, Vladimír MOJZÍKOVÁ, Renáta Horváthová, Monika Židová, Zuzana Kučerová, Jana
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	Univerzita Palackého v Olomouci / Lékařská fakulta
http://linked.open...dnocenehoVysledku	22861
http://linked.open...ai/riv/idVysledku	RIV/61989592:15110/14:33150194
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	red blood cell; pyruvate kinase deficiency; iron overload; hepcidin; ferritin (en)
http://linked.open.../riv/klicoveSlovo	ferritin pyruvate kinase deficiency hepcidin iron overload red blood cell
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[FD294DD7491A]
http://linked.open...i/riv/nazevZdroje	British Journal of Haematology
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	8 (xsd:int)
http://linked.open...cetTvurcuVysledku	13 (xsd:int)
http://linked.open...vavai/riv/projekt	Biomedicine for regional development and human resources Genetic analysis of EPOR signal transduction in iron depleted erythropoiesis
http://linked.open...UplatneniVysledku	2014
http://linked.open...v/svazekPeriodika	165
http://linked.open...iv/tvurceVysledku	Cermak, J. Indrák, Karel Kučerová, Jana Pospíšilová, Dagmar Divoký, Vladimír Horváthová, Monika Židová, Zuzana Mojzíková, Renáta Holub, Dušan Kořalková, Pavla Partschová, Martina Striezencova Laluhova, Z. Sukova, M.
http://linked.open...ain/vavai/riv/wos	000334686500015
issn	0007-1048
number of pages	8 (xsd:int)
http://bibframe.org/vocab/doi	10.1111/bjh.12779
http://localhost/t...ganizacniJednotka	15110

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