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Transferrin Saturation/Hepcidin Ratio Discriminates TMPRSS6-Related Iron Refractory Iron Deficiency Anemia from Patients with Multi-Causal Iron Deficiency Anemia
Pathogenic TMPRSS6 variants impairing matriptase-2 function result in inappropriately high hepcidin levels relative to body iron status, leading to iron refractory iron deficiency anemia (IRIDA). As diagnosing IRIDA can be challenging due to its genotypical and phenotypical heterogeneity, we assesse...
Autores principales: | van der Staaij, Hilde, Donker, Albertine E., Bakkeren, Dirk L., Salemans, Jan M. J. I., Mignot-Evers, Lisette A. A., Bongers, Marlies Y., Dieleman, Jeanne P., Galesloot, Tessel E., Laarakkers, Coby M., Klaver, Siem M., Swinkels, Dorine W. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8836508/ https://www.ncbi.nlm.nih.gov/pubmed/35163840 http://dx.doi.org/10.3390/ijms23031917 |
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