Blar i Department of Clinical Science på forfatter "Rafaelsen, Silje Hjorth"
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Hereditary hypophosphatemia in Norway: A retrospective population-based study of genotypes, phenotypes, and treatment complications
Rafaelsen, Silje Hjorth; Johansson, Stefan; Ræder, Helge; Bjerknes, Robert (Peer reviewed; Journal article, 2016-02)Objective: Hereditary hypophosphatemias (HH) are rare monogenic conditions characterized by decreased renal tubular phosphate reabsorption. The aim of this study was to explore the prevalence, genotypes, phenotypic spectrum, ... -
Hereditary phosphate balance disorders in Norwegian children
Rafaelsen, Silje Hjorth (Doctoral thesis, 2016-05-03)Background: Hereditary hypophosphatemia (HH) is a group of diseases characterized by monogenic hypophosphatemia due to reduced tubular maximum reabsorption of phosphate per glomerular filtration rate (TmP/GFR). This group ... -
Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature
Rafaelsen, Silje Hjorth; Johansson, Stefan; Ræder, Helge; Bjerknes, Robert (Peer reviewed; Journal article, 2014-09-24)Background: Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) and Hyperphosphatemic Hyperostosis Syndrome (HHS) are associated with autosomal recessive mutations in three different genes, FGF23, GALNT3 and KL, leading ...