Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F23%3A73621538" target="_blank" >RIV/61989592:15110/23:73621538 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/23:00133658 RIV/00098892:_____/23:10157943
Result on the web
<a href="https://onlinelibrary.wiley.com/doi/10.1111/bjh.18891" target="_blank" >https://onlinelibrary.wiley.com/doi/10.1111/bjh.18891</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/bjh.18891" target="_blank" >10.1111/bjh.18891</a>
Alternative languages
Result language
angličtina
Original language name
Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia
Original language description
The molecular pathophysiology of congenital erythrocytosis, a rare red blood cell disorder characterized by increased red cell mass, is heterogenous and not completely understood. The disease-causing pathogenic variant in many patients remains unknown, and due to poor diagnosis, also the pathophysiological consequences and the choice of correct therapy are also not clearly established. In this study, we performed molecular-genetic characterization of a cohort of Czech patients with congenital erythrocytosis complemented by the assessment of iron status parameters, hepcidin, erythroferrone and HFE sequencing.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30205 - Hematology
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
BRITISH JOURNAL OF HAEMATOLOGY
ISSN
0007-1048
e-ISSN
1365-2141
Volume of the periodical
202
Issue of the periodical within the volume
3
Country of publishing house
GB - UNITED KINGDOM
Number of pages
12
Pages from-to
674-685
UT code for WoS article
000996117400001
EID of the result in the Scopus database
2-s2.0-85160906208