Publications by authors named "Sidsel Salling Thorborg"

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Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity.
Arafat Nasser, Anette Torvin Møller, Vibe Hellmund, Sidsel Salling Thorborg, Cathrine Jespersgaard

Pain· June 2018

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Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
Tina Skjørringe, Per Amstrup Pedersen, Sidsel Salling Thorborg, Poul Nissen, Pontus Gourdon

Sci Rep· April 2017

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A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.
Lisbeth Birk Møller, Gillian Rea, Saiqa Yasmeen, Tina Skjørringe, Sidsel Salling Thorborg

Mol Genet Metab· December 2013

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