Associated Papers
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.
Aubert Mucca M et al.
Clinical Genetics, 2026
41339098 (PubMed )
Supplement: CGE-109-188-s001.xlsx › Literature
Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.
Yang K et al.
Molecular Genetics & Genomic Medicine, 2023
Protein production, kinetic and biophysical characterization of three human dihydroorotate dehydrogenase mutants associated with Miller syndrome.
Orozco Rodriguez JM et al.
Nucleosides, Nucleotides & Nucleic Acids, 2022
Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.
Duley JA et al.
Molecular Genetics and Metabolism, 2016
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