Associated Papers
Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum.
Grünert SC et al.
Genes, 2023
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
Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.
Mosegaard S et al.
International Journal of Molecular Sciences, 2020
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Mosegaard S et al.
Molecular Genetics and Metabolism, 2017
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