Neuropediatrics 2018; 49(S 02): S1-S69
DOI: 10.1055/s-0038-1675992
Georg Thieme Verlag KG Stuttgart · New YorkP 233. Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A
Rare, Treatable Neurodegenerative Disorder
Christina Rüsch
1
Division of Pediatric Neurology, University Children’s Hospital Zurich, Zürich, Switzerland
,
Saskia B. Wortmann
2
Institute of Human Genetics, Technische Universität München, München, Germany
3
Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany
4
Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical
University (PMU), Salzburg, Austria
,
Reka Kovacs-Nagy
2
Institute of Human Genetics, Technische Universität München, München, Germany
3
Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany
,
Patrice Grehten
5
Department of Diagnostic Imaging, University Children’s Hospital Zurich, Zürich, Switzerland
,
Johannes Häberle
6
Division of Metabolism, University Children’s Hospital Zurich, Zürich, Switzerland
,
Bea Latal
7
Child Development Center, University Children’s Hospital Zurich, Zürich, Switzerland
,
Georg Stettner
1
Division of Pediatric Neurology, University Children’s Hospital Zurich, Zürich, Switzerland
› Author Affiliations
