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
Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia.
Almatrafi AM et al.
Journal of Clinical Medicine, 2024
Case Report: Childhood Erythrocytosis due to Hypermanganesemia Caused by Homozygous SLC30A10 Mutation.
Coppola T et al.
Frontiers in Hematology, 2024
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man.
Tuschl K et al.
American Journal of Human Genetics, 2016
Pathology of inherited manganese transporter deficiency.
Lechpammer M et al.
Annals of Neurology, 2014
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
Tuschl K et al.
American Journal of Human Genetics, 2012
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