Associated Papers
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2.
Fang S et al.
Journal of Inherited Metabolic Disease, 2025
40320765 (PubMed )
Supplement: JIMD-48-0-s001.xlsx › Sheet1
Case Report: Childhood Erythrocytosis due to Hypermanganesemia Caused by Homozygous SLC30A10 Mutation.
Coppola T et al.
Frontiers in Hematology, 2024
Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.
Delnooz CC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.
Quadri M et al.
American Journal of Human Genetics, 2012
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