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Karin Tuschl | Researchclopedia

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Karin Tuschl

Great Ormond Street Hospital ORCID

63

Works

2,509

Citations

20

h-index

26

i10-index

Research Topics

Heavy Metal Exposure and Toxicity Trace Elements in Health Metabolism and Genetic Disorders

Affiliations

National Health Service2010–2010

University College Hospital2010–2010

Seattle Children's Hospital2013–2013

University of Vienna2006–2006

Radboud University Nijmegen2013–2013

Top Works

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man

Karin Tuschl,Peter T. Clayton,et al.

2012374 citations

Iron Metabolism and Disorders

Hemoglobinopathies and Related Disorders

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Karin Tuschl,Esther Meyer,et al.

2016315 citations

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Philippa B. Mills,Emma Footitt,et al.

2010264 citations

Manganese and the Brain

Karin Tuschl,Philippa B. Mills,et al.

2013202 citations

Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry

Margareta Holub,Karin Tuschl,et al.

2006139 citations

Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder

Karin Tuschl,Philippa B. Mills,et al.

2008128 citations

Mucopolysaccharidosis type II in females: Case report and review of literature

Karin Tuschl,Andreas Gal,et al.

2005127 citations

Dystonia with brain manganese accumulation resulting from <i>SLC30A10</i> mutations: A new treatable disorder

María Stamelou,Karin Tuschl,et al.

2012120 citations

Genetic Disorders of Manganese Metabolism

S. Anagianni,Karin Tuschl

2019115 citations