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Article

Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder.

Journal of inherited metabolic disease - 1 Apr 2008

Tuschl Karin, Mills Philippa B, Parsons Howard, Malone Marian, Fowler Darren, Bitner-Glindzicz Maria, Clayton Peter T

Abstract excerpt

We report a new constellation of clinical features consisting of hypermanganesaemia, liver cirrhosis, an extrapyramidal motor disorder and polycythaemia in a 12 year-old girl born to consanguineous parents. Blood manganese levels were >3000 nmol/L (normal range <320 nmol/L) and MRI revealed signal abnormalities of the basal ganglia consistent with manganese deposition. An older brother with the same phenotype...

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Identifiers

PMID: 18392750
DOI: 10.1007/s10545-008-0813-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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