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Results: 5

Select item 229267811.

Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.

Stamelou M, Tuschl K, Chong WK, Burroughs AK, Mills PB, Bhatia KP, Clayton PT.

Mov Disord. 2012 Sep 1;27(10):1317-22. doi: 10.1002/mds.25138. Epub 2012 Aug 23.

PMID:: 22926781; [PubMed - indexed for MEDLINE]

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Select item 223419722.

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.

Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB.

Am J Hum Genet. 2012 Mar 9;90(3):457-66. doi: 10.1016/j.ajhg.2012.01.018. Epub 2012 Feb 16.

PMID:: 22341972; [PubMed - indexed for MEDLINE]

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Select item 223419713.

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.

Quadri M, Federico A, Zhao T, Breedveld GJ, Battisti C, Delnooz C, Severijnen LA, Di Toro Mammarella L, Mignarri A, Monti L, Sanna A, Lu P, Punzo F, Cossu G, Willemsen R, Rasi F, Oostra BA, van de Warrenburg BP, Bonifati V.

Am J Hum Genet. 2012 Mar 9;90(3):467-77. doi: 10.1016/j.ajhg.2012.01.017. Epub 2012 Feb 16.

PMID:: 22341971; [PubMed - indexed for MEDLINE]

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Select item 184039264.

Is manganese an essential supplement for parenteral nutrition?

Hardy IJ, Gillanders L, Hardy G.

Curr Opin Clin Nutr Metab Care. 2008 May;11(3):289-96. doi: 10.1097/MCO.0b013e3282f9e889. Review.

PMID:: 18403926; [PubMed - indexed for MEDLINE]

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Select item 183927505.

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

Tuschl K, Mills PB, Parsons H, Malone M, Fowler D, Bitner-Glindzicz M, Clayton PT.

J Inherit Metab Dis. 2008 Apr;31(2):151-63. doi: 10.1007/s10545-008-0813-1. Epub 2008 Apr 4.

PMID:: 18392750; [PubMed - indexed for MEDLINE]

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2 free full-text articles in PubMed Central

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. [Am J Hum Genet. 2012]
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, et al. Am J Hum Genet. 2012 Mar 9; 90(3):457-66. Epub 2012 Feb 16.
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. [Am J Hum Genet. 2012]
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.
Quadri M, Federico A, Zhao T, Breedveld GJ, Battisti C, Delnooz C, Severijnen LA, Di Toro Mammarella L, Mignarri A, Monti L, et al. Am J Hum Genet. 2012 Mar 9; 90(3):467-77. Epub 2012 Feb 16.

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((parkinsonism/dystonia[All Fields] AND ("polycythaemia"[All Fields] OR "polycythemia"[MeSH Terms] OR "polycythemia"[All Fields]) AND chronic[All Fields] AND ("liver diseases"[MeSH Terms] OR ("liver"[All Fields] AND "diseases"[All Fields]) OR "liver diseases"[All Fields] OR ("liver"[All Fields] AND "disease"[All Fields]) OR "liver disease"[All Fields])) OR (("liver cirrhosis"[MeSH Terms] OR ("liver"[All Fields] AND "cirrhosis"[All Fields]) OR "liver cirrhosis"[All Fields] OR ("hepatic"[All Fields] AND "cirrhosis"[All Fields]) OR "hepatic cirrhosis"[All Fields]) AND ("dystonic disorders"[MeSH Terms] OR ("dystonic"[All Fields] AND "disorders"[All Fields]) OR "dystonic disorders"[All Fields] OR "dystonia"[All Fields] OR "dystonia"[MeSH Terms]) AND ("polycythaemia"[All Fields] OR "polycythemia"[MeSH Terms] OR "polycythemia"[All Fields]) AND hypermanganesemia[All Fields]) OR hypermanganesemia[All Fields] AND ("dystonic disorders"[MeSH Terms] OR ("dystonic"[All Fields] AND "disorders"[All Fields]) OR "dystonic disorders"[All Fields] OR "dystonia"[All Fields] OR "dystonia"[MeSH Terms]) OR hypermanganesaemia[All Fields]) AND english[la] AND "2003/05/11"[dp] : "2013/03/18"[dp]

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((parkinsonism/dystonia, polycythemia, chronic liver disease) OR (hepatic cirrhosis, dystonia, polycythemia and hypermanganesemia) OR (hypermanganesemia) AND (dystonia) OR (hypermanganesaemia)) AND english[la] AND "last 3600 days"[dp]
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