Literature DB >> 22807186

A new treatable genetic disorder of manganese metabolism causing dystonia-parkinsonism and cirrhosis: the "new" Wilson's disease?

Maria Stamelou1, Kailash P Bhatia.   

Abstract

Entities:  

Year:  2012        PMID： 22807186     DOI： 10.1002/mds.25031

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  2 in total

1.  A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism.

Authors:  Azita Tavasoli; Khadije Arjmandi Rafsanjani; Saba Hemmati; Marziyeh Mojbafan; Elham Zarei; Soudabeh Hosseini
Journal:  BMC Pediatr       Date:  2019-07-09       Impact factor: 2.125

2.  GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.

Authors:  Lucas D Ward; Ho-Chou Tu; Chelsea B Quenneville; Shira Tsour; Alexander O Flynn-Carroll; Margaret M Parker; Aimee M Deaton; Patrick A J Haslett; Luca A Lotta; Niek Verweij; Manuel A R Ferreira; Aris Baras; Gregory Hinkle; Paul Nioi
Journal:  Nat Commun       Date:  2021-07-27       Impact factor: 14.919
  2 in total

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