Associated Papers
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Tangeraas T et al.
International Journal of Neonatal Screening, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Genome instability in Maple Syrup Urine Disease correlates with impaired mitochondrial biogenesis.
Strand JM et al.
Metabolism: Clinical and Experimental, 2014
Phenylbutyrate therapy for maple syrup urine disease.
Brunetti-Pierri N et al.
Human Molecular Genetics, 2011
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.
Brodtkorb E et al.
Molecular Genetics and Metabolism, 2010
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