Albertine Donker

IRIDA: a Heterogeneous Disease 165 4 21. Laarakkers CM, Wiegerinck ET, Klaver S, et al. Improved mass spectrometry assay for plasma hepcidin: detection and characterization of a novel hepcidin isoform. PloS one. 2013;8(10):e75518. 22. Uijterschout L, Swinkels DW, Domellöf M, et al. Serum hepcidin measured by immunochemical and mass-spectrometric methods and their correlation with iron status indicators in healthy children aged 0.5-3 y. Pediatr Res. 2014;76(4):409-414. 23. www.hepcidinanalysis.com, accessed on July 14 2016 24. White SJ, Breuning MH, den Dunnen JT. Detecting copy number changes in genomic DNA: MAPH and MLPA. Methods in cell biology. 2004;75:751-768. 25. www.interactive-biosoftware.com/doc/ alamut-visual/2.7/, accessed on July 14 2016 26. https://genome.ucsc.edu/, accessed on September 12 2016 27. Cuijpers ML, Wiegerinck ET, Brouwer R, de Witte TJ, Swinkels DW. [Iron deficiency anaemia due to a matriptase-2 mutation]. Nederlands tijdschrift voor geneeskunde. 2010;154:A1038. 28. Rasmussen LJ, Heinen CD, Royer-Pokora B, et al. Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future. Human mutation. 2012;33(12):1617-1625. 29. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in medicine : official journal of the American College of Medical Genetics. 2015;17(5):405-424. 30. Kobune M, Miyanishi K, Takada K, et al. Establishment of a simple test for iron absorption from the gastrointestinal tract. International journal of hematology. 2011;93(6):715-719. 31. Gross SJ, Stuart MJ, Swender PT, Oski FA. Malabsorption of iron in children with iron deficiency. The Journal of pediatrics. 1976;88(5):795-799. 32. Marx JJ. Mucosal uptake, mucosal transfer and retention of iron, measured by whole- body counting. Scandinavian journal of haematology. 1979;23(4):293-302. 33. Cavill I. The preparation of 59Fe-labelled transferrin for ferrokinetic studies. Journal of Clinical Pathology. 1971;24(5):472-474. 34. Huff RL, Hennessy TG, Austin RE, Garcia JF, Roberts BM, Lawrence JH. Plasma and red cell iron turnover in normal subjects and in patients having various hematopoietic disorders. The Journal of clinical investigation. 1950;29(8):1041-1052. 35. Skelly DA, Ronald J, Akey JM. Inherited variation in gene expression. Annual review of genomics and human genetics. 2009;10:313-332. 36. Serre D, Gurd S, Ge B, et al. Differential Allelic Expression in the Human Genome: A Robust Approach To Identify Genetic and Epigenetic <italic>Cis</italic>-Acting Mechanisms Regulating Gene Expression. PLoS Genet. 2008;4(2):e1000006. 37. Nai A, Pagani A, Silvestri L, Camaschella C. Increased susceptibility to iron deficiency of Tmprss6-haploinsufficient mice. Blood. 2010;116(5):851-852. 38. Heeney MM, Campagna DR, Westerman M, et al. The clinical and genetic spectrum of TMPRSS6 mutations leading to inappropriate hepcidin expression and iron refractory iron deficiency anemia (IRIDA). Blood 2009. pp 260-261. (Abstract) 39. Cau M, Galanello R, Giagu N, Melis MA. Responsiveness to oral iron and ascorbic acid in a patient with IRIDA. Blood cells, molecules & diseases. 2012;48(2):121-123. 40. Kitsati N, Liakos D, Ermeidi E, et al. Rapid elevation of transferrin saturation and serum hepcidin concentration in hemodialysis patients after intravenous iron infusion. Haematologica. 2015;100(3):e80-83. 41. van der Weerd NC, Grooteman MP, Nubé MJ, ter Wee PM, Swinkels DW, Gaillard CA.