Associated Papers
Copper in Human Health and Disease: Insights from Inherited Disorders.
Petruzzelli R et al.
Physiology (bethesda, Md.), 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.
Juliá-Palacios N et al.
Brain Communications, 2025
Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1.
Dame C et al.
Clinical Genetics, 2023
Missing heritability of Wilson disease: a search for the uncharacterized mutations.
Roy S et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2023
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
Batzios S et al.
Human Molecular Genetics, 2022
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