Browsing Bergen Open Research Archive by Author "Brackman, Damien"
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Accuracy of single intravenous access iohexol GFR in children is hampered by marker contamination
Eide, Thea Tislevoll; Hufthammer, Karl Ove; Brun, Atle; Brackman, Damien; Svarstad, Einar; Tøndel, Camilla (Journal article; Peer reviewed, 2021)Measurement of glomerular filtration rate (GFR) in children by iohexol injection and blood sampling from the contralateral arm is widely used. A single intravenous access for iohexol injection and subsequent blood sampling ... -
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
Hikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki; Ferla, Matteo P.; Fassone, Elisa; Abbott, Mary-Alice; Bellusci, Marcello; Darin, Niklas; Dimmock, David; Ghezzi, Daniele; Houlden, Henry; Invernizzi, Federica; Kamarus Jaman, Nazreen B.; Kurian, Manju A.; Morava, Eva; Naess, Karin; Ortigoza-Escobar, Juan Darío; Parikh, Sumit; Pennisi, Alessandra; Barcia, Giulia; Tylleskär, Karin; Brackman, Damien; Wortmann, Saskia B.; Taylor, Jenny C.; Bindoff, Laurence Albert; Fellman, Vineta; Rahman, Shamima (Journal article; Peer reviewed, 2021)Objective To delineate the full phenotypic spectrum of BCS1L-related disease, provide better understanding of the genotype–phenotype correlations and identify reliable prognostic disease markers. Methods We performed ...