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: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants-differential diagnosis and recommendation for biochemical and genetic screening.
Giannini R et al.
Frontiers in Pediatrics, 2024
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